Biochemistry

In this study, the antioxidant and antiacetylcholinesterase activities of Sorbus torminalis (L.) Crantz fruits were evaluated. Total phenolic and flavonoid compounds, 2,2-azino-bis (3-ethylbenzothioazoline-6-sulfonic acid), 2,2-diphenyl-1-picrylhydrazyl, and superoxide anion radicals scavenging activities and ferric-reducing antioxidant power of water, ethyl
acetate, acetone, and methanol extracts were determined for the measurement of the
antioxidant activity. Quercetin and a-tocopherol were used as standard antioxidants. The inhibitory effect of the water extract on acetylcholinesterase (AChE) was evaluated using the Ellman method and galantamine was used as a standard. Water extract had the highest total phenolic concentration and the strongest antioxidant activity followed by ethyl acetate and acetone extracts whereas methanol extract has the lowest phenolics and weakest antioxidant activity. Moreover, water extract showed moderate ability to inhibit AChE. It was concluded that fruits of S. torminalis have antioxidant and anti-AChE activities and that the plant might be a natural source of antioxidants and AChE inhibitors.

Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal alpha-galac-tosidase A (AGALA) activity. FD and familial Mediterranean fever (FMF) have typical clinical similarities, and both diseases may progress to end-stage renal diseases. In this study, we aimed to determine the prevalence of FD in patients with FMF from Central Anatolia of Turkey. The study group consisted of 177 FMF patients, followed up by the Adult and Pediatric Nephrology Clinic of Cumhuriyet University Hospital. Screening for AGALA activity was performed by the dry blood spot method. Mutation analysis for GLA gene was carried out for patients having an AGALA enzyme activity value lower than the normal reference value. Low AGALA activity was detected in 23 (13 %) patients. Heterozygous GLA gene mutation c.[937G[T] p.[D313Y] was detected in one female patient (0.56 %). The patient was a 53-year-old female with proteinuria and who had undergone left nephrectomy; her glomerular filtration rate (GFR) by scintigraphy was found to be 70 ml/min. She had M694V mutation and no clinical manifestation of FD. In our study, the prevalence rate of FD was found as 0.56 % in FMF patients. The similarities between the symptoms of FMF and FD might lead to a diagnostic dilemma in physicians at countries where FMF is observed frequently. Although the