PurposeAmino acids (AAs) play important physiological roles in living cells. Some amino acid chan... more PurposeAmino acids (AAs) play important physiological roles in living cells. Some amino acid changes in blood are specific for autoimmune disorders, and some are specific for thyroid cancer. The aims of this study were to profile AA metabolites in the serum of patients with papillary thyroid carcinoma (PTC0) without Hashimoto’s thyroiditis (HT) and patients with PTC with HT (PTC1) and predict whether AA metabolites are associated with thyroid disease, thyroid hormone and thyroid autoantibodies.MethodsA total of 95 serum samples were collected, including 28 healthy controls (HCs), 28 PTC0 patients and 39 PTC1 patients. Serum samples were analyzed by high-performance liquid chromatography-triple stage quadrupole-mass spectrometry (HPLC-TSQ-MS), and twenty-one amino acids (AAs) were detected.ResultsThe serum concentration of glutamic acid was significantly elevated in PTC1 patients compared with PTC0 patients. Lysine was the second amino acid that differentiated these two groups of PTC...
Journal of the Marine Biological Association of the United Kingdom, Feb 19, 2014
Sea food is very rich in lipids. The brown shrimp,Crangon crangonis a most popular and very valua... more Sea food is very rich in lipids. The brown shrimp,Crangon crangonis a most popular and very valuable taxon in the White Sea, in the Mediterranean and in the Black Seas. The aim of this study was to determine the seasonal variations of lipids inC. crangonmuscle tissue using gas chromatography–mass spectrometry. The lipids were separated into groups: neutral lipids (triacylglycerols, free fatty acids, sterols) and polar lipids (phospholipids), by high performance liquid chromatography with a laser light-scattering detector. Fatty acids were identified using the GC-MS technique. The mainly fatty acids were 16:0, 18:0 (saturated FAs), 16:1, 18:1 (monounsaturated FAs), 20:4 (ARA), 20:5 (EPA) and 22:6 (DHA). The largest amounts of fatty acids in the muscle were observed in spring; these were the result of collecting food after winter and before reproduction. The muscle lipid content was 32.2 ± 1.8 mg g−1. The summer was the poorest season and the lipid value was 7.7 ±0.4 mg g−1. The levels of muscle neutral lipids (NL) oscillated between 80% (autumn) and 90% (spring). The temperature and salinity has a significant influence on content and profile of fatty acids. This work will help to understand the biology, the seasonal variation in lipid mass, lipid classes content and fatty acids profile in the abdominal muscle ofC. crangon.
Adipose triglyceride lipase (ATGL) is involved in lipolysis and displays detrimental pathophysiol... more Adipose triglyceride lipase (ATGL) is involved in lipolysis and displays detrimental pathophysiological role in cardio-metabolic diseases. However, the organo-protective effects of ATGL-induced lipolysis were also suggested. The aim of this work was to characterize the function of lipid droplets (LDs) and ATGLinduced lipolysis in the regulation of endothelial function. ATGL-dependent LDs hydrolysis and cytosolic phospholipase A 2 (cPLA 2)-derived eicosanoids production were studied in the aorta, endothelial and smooth muscle cells exposed to exogenous oleic acid (OA) or arachidonic acid (AA). Functional effects of ATGL-dependent lipolysis was studied in vitro in endothelial barrier integrity assay and in vivo in relation to postprandial endothelial dysfunction. The formation of LDs was invariably associated with elevated production of endogenous AA-derived prostacyclin (PGI 2). In the presence of the inhibitor of ATGL or the inhibitor of cytosolic phospholipase A 2 ,, production of eicosanoids was reduced, with concomitant increase in the number of LDs. OA administration impaired endothelial barrier integrity in vitro that was further impaired if OA was given together with atglistatin. In vivo, olive oil induced postprandial endothelial dysfunction that was signi cantly deteriorated by ATGL inhibition. In summary, vascular lipid droplets formation was associated with ATGL-and cPLA 2-dependent PGI 2 production from endogenous AA. The inhibition of ATGL resulted in an impairment of endothelial barrier function in vitro and deterioration of endothelial function upon exposure to olive oil in vivo. These results demonstrate that vascular ATGL-cPLA 2-PGI 2− dependent pathway activated by lipid overload and linked to LDs formation in endothelium and smooth muscle cells has a vasoprotective role and counterbalances detrimental vascular effects of lipid overload.
The bioactive oxylipins are important compounds in the chronic in ammation-associated conditions,... more The bioactive oxylipins are important compounds in the chronic in ammation-associated conditions, such as obesity. Treatment of obesity with bariatric surgery improves metabolic state of the patients, thus, the study of oxylipins can provide insight into how the metabolic states of patients changes after the procedure. We determined the free oxylipins pro le in serum of 15 patients that underwent one-anastomosis gastric bypass (OAGB) before the surgery, two weeks and 6-9 months after the surgery. For this purpose, a liquid chromatography-tandem mass spectrometry (LC-MS/MS), with solid-phase extraction (SPE) method was validated for the quanti cation of 27 oxylipins. The analytical method was characterized by good linearity (regression coe cient > 0.99), detection limits from 2 pg to 394 pg. The mean precision was ~ 101%, accuracy was ~ 12% and extraction e ciency for most analytes ranged between 80-120%. In patients serum samples at 6-9 months the oxylipin pro les differed signi cantly from other time points, mostly with regards to oxylipins associated with endothelial function. Our study demonstrates the value in oxylipin pro ling to monitor the metabolic effects of obesity treatment.
This article is an open access article distributed under the terms and conditions of the Creative... more This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY
Bladder cancer is a common disease and a significant cause of death worldwide. There is thus grea... more Bladder cancer is a common disease and a significant cause of death worldwide. There is thus great interest in identifying a diagnostic and prognostic biomarker, as well as gaining an understanding of the molecular basis of bladder cancer. Stearoyl-CoA desaturase 1 gene (SCD1) is highly overexpressed in many human cancers. However, the expression of SCD1 has not yet been investigated in patients with bladder cancer. Here, we document that (a) the SCD1 is highly overexpressed in human bladder cancer; (b) high expression of SCD1 is more frequently observed in the late stage of disease and patients with lymph node metastasis; (c) bladder cancer patients with a higher SCD1 mRNA level have a poorer survival rate than those with normal SCD1 expression. Overall, this is the first report to indicate an association between SCD1 mRNA level and clinical indicators of human bladder cancer. Our study has provided evidence supporting the potential role of SCD1 as a biomarker for human bladder cancer prognosis.
International Journal of Molecular Sciences, May 29, 2023
This article is an open access article distributed under the terms and conditions of the Creative... more This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY
This article is an open access article distributed under the terms and conditions of the Creative... more This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY
ObjectiveAlterations in the hepatic lipidome are a crucial factor involved in the pathophysiology... more ObjectiveAlterations in the hepatic lipidome are a crucial factor involved in the pathophysiology of nonalcoholic fatty liver disease (NAFLD). The aim of this study was to evaluate the serum and hepatic profile of branched‐chain fatty acids (BCFAs) in patients with different stages of NAFLD.MethodsThis was a case–control study performed in 27 patients without NAFLD, 49 patients with nonalcoholic fatty liver, and 17 patients with nonalcoholic steatohepatitis, defined by liver biopsies. Serum and hepatic levels of BCFAs were analyzed by gas chromatography–mass spectrometry. The hepatic expression of genes involved in the endogenous synthesis of BCFAs was analyzed by real‐time quantitative polymerase chain reaction (RT‐qPCR).ResultsA significant increase in hepatic BCFAs was found in subjects with NAFLD compared with those without NAFLD; no differences were observed in serum BCFAs between study groups. Trimethyl BCFAs, iso‐BCFAs, and anteiso‐BCFAs were increased in subjects with NAFLD (either nonalcoholic fatty liver or nonalcoholic steatohepatitis) compared with those without NAFLD. Correlation analysis showed a relationship between hepatic BCFAs and the histopathological diagnosis of NAFLD, as well as other histological and biochemical parameters related to this disease. Gene expression analysis in liver showed that the mRNA levels of BCAT1, BCAT2, and BCKDHA were upregulated in patients with NAFLD.ConclusionsThese results suggest that the increased production of liver BCFAs might be related to NAFLD development and progression.
Background: The epidermis forms the barrier between an organism and its external environment. Alt... more Background: The epidermis forms the barrier between an organism and its external environment. Although one of the major functional elements of the epidermis is the lipid-enriched extracellular matrix, containing mainly ceramides, cholesterol (CHOL) and free fatty acids, the data are limited regarding the lipid profile in the epidermis. The aim of the study was to determine the whole profile of fatty acids (FAs) in the epidermis and to examine any dependence according to the age of the subject and the site on the epidermis. Materials and methods: Epidermis extracts obtained from 10 adults and 6 children were analyzed by gas chromatography-mass spectrometry. Results: In total, 74 FAs in the human epidermis were identified. We observed the highest amounts of neutral lipids (including CHOL) compared to other lipid fractions in the epidermis, regardless of age. However, we detected an age-dependent content of the major lipid fractions, where the main difference was in the levels of polyunsaturated fatty acids. There were also differences in the lipid profile between various sites of the body, e.g. samples from the breast and abdomen were enriched with very long-chain fatty acids compared to the limb. Conclusion: Our research provides novel data concerning the lipid profile in the epidermis, gives further insight into skin biology and proves that the epidermis is a highly dynamic structure.
Ichthyosis and neurological involvement occur in relatively few known Mendelian disorders caused ... more Ichthyosis and neurological involvement occur in relatively few known Mendelian disorders caused by mutations in genes relevant both for epidermis and neural function. To identify the cause of a similar phenotype of ichthyotic keratoderma, spasticity, mild hypomyelination (on MRI) and dysmorphic features (IKSHD) observed in two unrelated paediatric probands without family history of disease. Whole exome sequencing was performed in both patients. The functional effect of prioritised variant in ELOVL1 (very-long-chain fatty acids (VLCFAs) elongase) was analysed by VLCFA profiling by gas chromatography-mass spectrometry in stably transfected HEK2932 cells and in cultured patient's fibroblasts. Probands shared novel heterozygousp.Ser165Phe mutation (de novo in one family, while in the other family, father could not be tested). In transfected cells p.Ser165Phe: (1) reduced levels of FAs C24:0-C28:0 and C26:1 with the most pronounced effect for C26:0 (P=7.8×10 vs HEK293 cells with wild type (wt) construct, no difference vs naïve HEK293) and (2) increased levels of C20:0 and C22:0 (P=6.3×10, P=1.2×10, for C20:0 and C22:0, respectively, comparison vs HEK293 cells with wt construct; P=2.2×10, P=1.9×10, respectively, comparison vs naïve HEK293). In skin fibroblasts, there was decrease of C26:1 (P=0.014), C28:0 (P=0.001) and increase of C20:0 (P=0.033) in the patient versus controls. There was a strong correlation (r=0.92, P=0.008) between the FAs profile of patient's fibroblasts and that of p.Ser165Phe transfected HEK293 cells. Serum levels of C20:0-C26:0 FAs were normal, but the C24:0/C22:0 ratio was decreased. Thep.Ser165Phe mutation is a likely cause of IKSHD.
Background Breast cancer is associated with alterations in lipid metabolism. The treatment of bre... more Background Breast cancer is associated with alterations in lipid metabolism. The treatment of breast cancer can also affect serum lipid composition. The purpose of this study was the examination of serum fatty acids (FAs) profiles in breast cancer survivors to assess if the FA levels normalize. Methods Serum levels of FAs were determined by gas chromatography–mass spectrometry in a group of breast cancer patients at baseline (before treatment, n = 28), at two follow-up visits at 12 months (n = 27) and 24 months (n = 19) after the breast cancer resection, and in the group of healthy controls (n = 25). Multivariate analysis was performed to assess how FA serum profile changes following treatment. Results Breast cancer patients’ serum FA profiles at follow-ups did not normalize to the levels of control group. The greatest differences were found for levels of branched-chain (BCFA), odd-chain (OCFA) and polyunsaturated (PUFAs) FAs, all of which were significantly increased 12 months afte...
Introduction Obesity is associated with disturbed gut microbiota homeostasis that translates into... more Introduction Obesity is associated with disturbed gut microbiota homeostasis that translates into altered intestinal and blood metabolite profiles. The long-chain fatty acid (LCFA) may be absorbed in the intestine, but until now, their composition in intestinal contents of patients with obesity has not been studied. The aim of the present study was to verify whether obesity is related to any changes in fecal LCFA content and whether intestinal LCFA content may be associated with the health status of patients with obesity. Methods The fatty acid composition has been studied in stool samples obtained from 26 patients with morbid obesity and 25 lean subjects by gas chromatography–mass spectrometry. The dietary habits were assessed using the Food Frequency Questionnaire (FFQ-6). Results Our results show for the first time that lean subjects and patients with obesity differ in their stool LCFA profiles. The levels of most n-3 polyunsaturated fatty acids (PUFAs) and n-6 PUFAs were signifi...
Purpose of Review The review aims to describe short-chain fatty acids (SCFAs) as metabolites of b... more Purpose of Review The review aims to describe short-chain fatty acids (SCFAs) as metabolites of bacteria, their complex influence on whole-body metabolism, and alterations in the SCFA profile in obesity and after bariatric surgery (BS). Recent Findings The fecal profile of SCFAs in obese patients differs from that of lean patients, as well as their gut microbiota composition. In obese patients, a lower diversity of bacteria is observed, as well as higher concentrations of SCFAs in stool samples. Obesity is now considered a global epidemic and bariatric surgery (BS) is an effective treatment for severe obesity. BS affects the structure and functioning of the digestive system, and also alters gut microbiota and the concentration of fecal SCFAs. Generally, after BS, SCFA levels are lower but levels of branched short-chain fatty acids (BSCFAs) are elevated, the effect of which is not fully understood. Moreover, changes in the profile of circulating SCFAs are little known and this is an ...
Background: Systemic sclerosis (SSc) is an autoimmune disease with an elusive etiology and poor p... more Background: Systemic sclerosis (SSc) is an autoimmune disease with an elusive etiology and poor prognosis. Due to its diverse clinical presentation, a personalized approach is obligatory and needs to be based on a comprehensive biomarker panel. Therefore, particular metabolomic studies are necessary. Lipidomics addressed these issues and found disturbances in several crucial metabolic pathways.Aim of Review: The review aims to briefly summarize current knowledge related to lipid alterations in systemic sclerosis, highlight its importance, and encourage further research in this field.Key Scientific Concepts of Review: In this review, we summarized the studies on the lipidomic pattern, fatty acids, lipoproteins, cholesterol, eicosanoids, prostaglandins, leukotrienes, lysophospholipids, and sphingolipids in systemic sclerosis. Researchers demonstrated several alternate aspects of lipid metabolism. As we aimed to present our findings in a comprehensive view, we decided to divide our fin...
PurposeAmino acids (AAs) play important physiological roles in living cells. Some amino acid chan... more PurposeAmino acids (AAs) play important physiological roles in living cells. Some amino acid changes in blood are specific for autoimmune disorders, and some are specific for thyroid cancer. The aims of this study were to profile AA metabolites in the serum of patients with papillary thyroid carcinoma (PTC0) without Hashimoto’s thyroiditis (HT) and patients with PTC with HT (PTC1) and predict whether AA metabolites are associated with thyroid disease, thyroid hormone and thyroid autoantibodies.MethodsA total of 95 serum samples were collected, including 28 healthy controls (HCs), 28 PTC0 patients and 39 PTC1 patients. Serum samples were analyzed by high-performance liquid chromatography-triple stage quadrupole-mass spectrometry (HPLC-TSQ-MS), and twenty-one amino acids (AAs) were detected.ResultsThe serum concentration of glutamic acid was significantly elevated in PTC1 patients compared with PTC0 patients. Lysine was the second amino acid that differentiated these two groups of PTC...
Journal of the Marine Biological Association of the United Kingdom, Feb 19, 2014
Sea food is very rich in lipids. The brown shrimp,Crangon crangonis a most popular and very valua... more Sea food is very rich in lipids. The brown shrimp,Crangon crangonis a most popular and very valuable taxon in the White Sea, in the Mediterranean and in the Black Seas. The aim of this study was to determine the seasonal variations of lipids inC. crangonmuscle tissue using gas chromatography–mass spectrometry. The lipids were separated into groups: neutral lipids (triacylglycerols, free fatty acids, sterols) and polar lipids (phospholipids), by high performance liquid chromatography with a laser light-scattering detector. Fatty acids were identified using the GC-MS technique. The mainly fatty acids were 16:0, 18:0 (saturated FAs), 16:1, 18:1 (monounsaturated FAs), 20:4 (ARA), 20:5 (EPA) and 22:6 (DHA). The largest amounts of fatty acids in the muscle were observed in spring; these were the result of collecting food after winter and before reproduction. The muscle lipid content was 32.2 ± 1.8 mg g−1. The summer was the poorest season and the lipid value was 7.7 ±0.4 mg g−1. The levels of muscle neutral lipids (NL) oscillated between 80% (autumn) and 90% (spring). The temperature and salinity has a significant influence on content and profile of fatty acids. This work will help to understand the biology, the seasonal variation in lipid mass, lipid classes content and fatty acids profile in the abdominal muscle ofC. crangon.
Adipose triglyceride lipase (ATGL) is involved in lipolysis and displays detrimental pathophysiol... more Adipose triglyceride lipase (ATGL) is involved in lipolysis and displays detrimental pathophysiological role in cardio-metabolic diseases. However, the organo-protective effects of ATGL-induced lipolysis were also suggested. The aim of this work was to characterize the function of lipid droplets (LDs) and ATGLinduced lipolysis in the regulation of endothelial function. ATGL-dependent LDs hydrolysis and cytosolic phospholipase A 2 (cPLA 2)-derived eicosanoids production were studied in the aorta, endothelial and smooth muscle cells exposed to exogenous oleic acid (OA) or arachidonic acid (AA). Functional effects of ATGL-dependent lipolysis was studied in vitro in endothelial barrier integrity assay and in vivo in relation to postprandial endothelial dysfunction. The formation of LDs was invariably associated with elevated production of endogenous AA-derived prostacyclin (PGI 2). In the presence of the inhibitor of ATGL or the inhibitor of cytosolic phospholipase A 2 ,, production of eicosanoids was reduced, with concomitant increase in the number of LDs. OA administration impaired endothelial barrier integrity in vitro that was further impaired if OA was given together with atglistatin. In vivo, olive oil induced postprandial endothelial dysfunction that was signi cantly deteriorated by ATGL inhibition. In summary, vascular lipid droplets formation was associated with ATGL-and cPLA 2-dependent PGI 2 production from endogenous AA. The inhibition of ATGL resulted in an impairment of endothelial barrier function in vitro and deterioration of endothelial function upon exposure to olive oil in vivo. These results demonstrate that vascular ATGL-cPLA 2-PGI 2− dependent pathway activated by lipid overload and linked to LDs formation in endothelium and smooth muscle cells has a vasoprotective role and counterbalances detrimental vascular effects of lipid overload.
The bioactive oxylipins are important compounds in the chronic in ammation-associated conditions,... more The bioactive oxylipins are important compounds in the chronic in ammation-associated conditions, such as obesity. Treatment of obesity with bariatric surgery improves metabolic state of the patients, thus, the study of oxylipins can provide insight into how the metabolic states of patients changes after the procedure. We determined the free oxylipins pro le in serum of 15 patients that underwent one-anastomosis gastric bypass (OAGB) before the surgery, two weeks and 6-9 months after the surgery. For this purpose, a liquid chromatography-tandem mass spectrometry (LC-MS/MS), with solid-phase extraction (SPE) method was validated for the quanti cation of 27 oxylipins. The analytical method was characterized by good linearity (regression coe cient > 0.99), detection limits from 2 pg to 394 pg. The mean precision was ~ 101%, accuracy was ~ 12% and extraction e ciency for most analytes ranged between 80-120%. In patients serum samples at 6-9 months the oxylipin pro les differed signi cantly from other time points, mostly with regards to oxylipins associated with endothelial function. Our study demonstrates the value in oxylipin pro ling to monitor the metabolic effects of obesity treatment.
This article is an open access article distributed under the terms and conditions of the Creative... more This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY
Bladder cancer is a common disease and a significant cause of death worldwide. There is thus grea... more Bladder cancer is a common disease and a significant cause of death worldwide. There is thus great interest in identifying a diagnostic and prognostic biomarker, as well as gaining an understanding of the molecular basis of bladder cancer. Stearoyl-CoA desaturase 1 gene (SCD1) is highly overexpressed in many human cancers. However, the expression of SCD1 has not yet been investigated in patients with bladder cancer. Here, we document that (a) the SCD1 is highly overexpressed in human bladder cancer; (b) high expression of SCD1 is more frequently observed in the late stage of disease and patients with lymph node metastasis; (c) bladder cancer patients with a higher SCD1 mRNA level have a poorer survival rate than those with normal SCD1 expression. Overall, this is the first report to indicate an association between SCD1 mRNA level and clinical indicators of human bladder cancer. Our study has provided evidence supporting the potential role of SCD1 as a biomarker for human bladder cancer prognosis.
International Journal of Molecular Sciences, May 29, 2023
This article is an open access article distributed under the terms and conditions of the Creative... more This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY
This article is an open access article distributed under the terms and conditions of the Creative... more This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY
ObjectiveAlterations in the hepatic lipidome are a crucial factor involved in the pathophysiology... more ObjectiveAlterations in the hepatic lipidome are a crucial factor involved in the pathophysiology of nonalcoholic fatty liver disease (NAFLD). The aim of this study was to evaluate the serum and hepatic profile of branched‐chain fatty acids (BCFAs) in patients with different stages of NAFLD.MethodsThis was a case–control study performed in 27 patients without NAFLD, 49 patients with nonalcoholic fatty liver, and 17 patients with nonalcoholic steatohepatitis, defined by liver biopsies. Serum and hepatic levels of BCFAs were analyzed by gas chromatography–mass spectrometry. The hepatic expression of genes involved in the endogenous synthesis of BCFAs was analyzed by real‐time quantitative polymerase chain reaction (RT‐qPCR).ResultsA significant increase in hepatic BCFAs was found in subjects with NAFLD compared with those without NAFLD; no differences were observed in serum BCFAs between study groups. Trimethyl BCFAs, iso‐BCFAs, and anteiso‐BCFAs were increased in subjects with NAFLD (either nonalcoholic fatty liver or nonalcoholic steatohepatitis) compared with those without NAFLD. Correlation analysis showed a relationship between hepatic BCFAs and the histopathological diagnosis of NAFLD, as well as other histological and biochemical parameters related to this disease. Gene expression analysis in liver showed that the mRNA levels of BCAT1, BCAT2, and BCKDHA were upregulated in patients with NAFLD.ConclusionsThese results suggest that the increased production of liver BCFAs might be related to NAFLD development and progression.
Background: The epidermis forms the barrier between an organism and its external environment. Alt... more Background: The epidermis forms the barrier between an organism and its external environment. Although one of the major functional elements of the epidermis is the lipid-enriched extracellular matrix, containing mainly ceramides, cholesterol (CHOL) and free fatty acids, the data are limited regarding the lipid profile in the epidermis. The aim of the study was to determine the whole profile of fatty acids (FAs) in the epidermis and to examine any dependence according to the age of the subject and the site on the epidermis. Materials and methods: Epidermis extracts obtained from 10 adults and 6 children were analyzed by gas chromatography-mass spectrometry. Results: In total, 74 FAs in the human epidermis were identified. We observed the highest amounts of neutral lipids (including CHOL) compared to other lipid fractions in the epidermis, regardless of age. However, we detected an age-dependent content of the major lipid fractions, where the main difference was in the levels of polyunsaturated fatty acids. There were also differences in the lipid profile between various sites of the body, e.g. samples from the breast and abdomen were enriched with very long-chain fatty acids compared to the limb. Conclusion: Our research provides novel data concerning the lipid profile in the epidermis, gives further insight into skin biology and proves that the epidermis is a highly dynamic structure.
Ichthyosis and neurological involvement occur in relatively few known Mendelian disorders caused ... more Ichthyosis and neurological involvement occur in relatively few known Mendelian disorders caused by mutations in genes relevant both for epidermis and neural function. To identify the cause of a similar phenotype of ichthyotic keratoderma, spasticity, mild hypomyelination (on MRI) and dysmorphic features (IKSHD) observed in two unrelated paediatric probands without family history of disease. Whole exome sequencing was performed in both patients. The functional effect of prioritised variant in ELOVL1 (very-long-chain fatty acids (VLCFAs) elongase) was analysed by VLCFA profiling by gas chromatography-mass spectrometry in stably transfected HEK2932 cells and in cultured patient's fibroblasts. Probands shared novel heterozygousp.Ser165Phe mutation (de novo in one family, while in the other family, father could not be tested). In transfected cells p.Ser165Phe: (1) reduced levels of FAs C24:0-C28:0 and C26:1 with the most pronounced effect for C26:0 (P=7.8×10 vs HEK293 cells with wild type (wt) construct, no difference vs naïve HEK293) and (2) increased levels of C20:0 and C22:0 (P=6.3×10, P=1.2×10, for C20:0 and C22:0, respectively, comparison vs HEK293 cells with wt construct; P=2.2×10, P=1.9×10, respectively, comparison vs naïve HEK293). In skin fibroblasts, there was decrease of C26:1 (P=0.014), C28:0 (P=0.001) and increase of C20:0 (P=0.033) in the patient versus controls. There was a strong correlation (r=0.92, P=0.008) between the FAs profile of patient's fibroblasts and that of p.Ser165Phe transfected HEK293 cells. Serum levels of C20:0-C26:0 FAs were normal, but the C24:0/C22:0 ratio was decreased. Thep.Ser165Phe mutation is a likely cause of IKSHD.
Background Breast cancer is associated with alterations in lipid metabolism. The treatment of bre... more Background Breast cancer is associated with alterations in lipid metabolism. The treatment of breast cancer can also affect serum lipid composition. The purpose of this study was the examination of serum fatty acids (FAs) profiles in breast cancer survivors to assess if the FA levels normalize. Methods Serum levels of FAs were determined by gas chromatography–mass spectrometry in a group of breast cancer patients at baseline (before treatment, n = 28), at two follow-up visits at 12 months (n = 27) and 24 months (n = 19) after the breast cancer resection, and in the group of healthy controls (n = 25). Multivariate analysis was performed to assess how FA serum profile changes following treatment. Results Breast cancer patients’ serum FA profiles at follow-ups did not normalize to the levels of control group. The greatest differences were found for levels of branched-chain (BCFA), odd-chain (OCFA) and polyunsaturated (PUFAs) FAs, all of which were significantly increased 12 months afte...
Introduction Obesity is associated with disturbed gut microbiota homeostasis that translates into... more Introduction Obesity is associated with disturbed gut microbiota homeostasis that translates into altered intestinal and blood metabolite profiles. The long-chain fatty acid (LCFA) may be absorbed in the intestine, but until now, their composition in intestinal contents of patients with obesity has not been studied. The aim of the present study was to verify whether obesity is related to any changes in fecal LCFA content and whether intestinal LCFA content may be associated with the health status of patients with obesity. Methods The fatty acid composition has been studied in stool samples obtained from 26 patients with morbid obesity and 25 lean subjects by gas chromatography–mass spectrometry. The dietary habits were assessed using the Food Frequency Questionnaire (FFQ-6). Results Our results show for the first time that lean subjects and patients with obesity differ in their stool LCFA profiles. The levels of most n-3 polyunsaturated fatty acids (PUFAs) and n-6 PUFAs were signifi...
Purpose of Review The review aims to describe short-chain fatty acids (SCFAs) as metabolites of b... more Purpose of Review The review aims to describe short-chain fatty acids (SCFAs) as metabolites of bacteria, their complex influence on whole-body metabolism, and alterations in the SCFA profile in obesity and after bariatric surgery (BS). Recent Findings The fecal profile of SCFAs in obese patients differs from that of lean patients, as well as their gut microbiota composition. In obese patients, a lower diversity of bacteria is observed, as well as higher concentrations of SCFAs in stool samples. Obesity is now considered a global epidemic and bariatric surgery (BS) is an effective treatment for severe obesity. BS affects the structure and functioning of the digestive system, and also alters gut microbiota and the concentration of fecal SCFAs. Generally, after BS, SCFA levels are lower but levels of branched short-chain fatty acids (BSCFAs) are elevated, the effect of which is not fully understood. Moreover, changes in the profile of circulating SCFAs are little known and this is an ...
Background: Systemic sclerosis (SSc) is an autoimmune disease with an elusive etiology and poor p... more Background: Systemic sclerosis (SSc) is an autoimmune disease with an elusive etiology and poor prognosis. Due to its diverse clinical presentation, a personalized approach is obligatory and needs to be based on a comprehensive biomarker panel. Therefore, particular metabolomic studies are necessary. Lipidomics addressed these issues and found disturbances in several crucial metabolic pathways.Aim of Review: The review aims to briefly summarize current knowledge related to lipid alterations in systemic sclerosis, highlight its importance, and encourage further research in this field.Key Scientific Concepts of Review: In this review, we summarized the studies on the lipidomic pattern, fatty acids, lipoproteins, cholesterol, eicosanoids, prostaglandins, leukotrienes, lysophospholipids, and sphingolipids in systemic sclerosis. Researchers demonstrated several alternate aspects of lipid metabolism. As we aimed to present our findings in a comprehensive view, we decided to divide our fin...
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