MELANIN & ALBINISM
DR A K SINHA
DEPT.OF BIOCHEMISTRY
B & C MEDICAL COLLEGE
BIRTAMODE, JHAPA,NEPAL
Human skin
The human skin is the outer covering of the body. In humans, it is the largest
organ of the integumentary system.
Pigments
There are at least five different pigments
that determine the colour of the skin.
1-Melanin: It is brown in colour.
2-Melanoid: It resembles melanin but is
present diffusely throughout the
epidermis.
3-Keratin: This pigment is yellow to orange in colour.
4-Hemoglobin: It is found in blood and is not a pigment of the skin but
develops a purple color.
5-Oxyhemoglobin: It is also found in blood and is not a pigment of the skin. It
develops a red color.
Melanin
Melanin is a natural pigment found in
most organisms. In animals melanin
pigments are derivatives of the amino
acid tyrosine.
Melanin is brown, non-refractile, and
finely granular with individual granules
having a diameter of less than 800
nanometers.
The most common biological melanin is eumelanin: This is a brown-
black polymer of dihydroxyindole carboxylic acids and their reduced forms.
Another common form of melanin is pheomelanin: a cysteine-containing
red-brown polymer of benzothiazine units largely responsible for red hair
and freckl.
ALBINISM
• Greek world, albino means white.
• Albinism is an autosomal recessive disease
with an incidence of 1 in 20.000 population.
Tyrosinase is completely absent, leading to
defective synthesis of melanin.
• The skin has low pigmentation, and so skin is
sensitive to UV rays. Hair is also white.
Melanin Synthesis:
Melanin pigment gives the black color to the
skin and hair. There is only one enzyme involved,
which catalyzes the first two steps. The
remaining reactions are non enzymatic and
occur spontaneously.
Melanin synthesis
Special cells known as melanocytes produce melanin in the outer layer of the
skin.
The greater expression of the gene creates an increase in the synthesis of
melanin.
Precursor
L-tyrosine is a precursor of melanin. This means that certain biochemical
pathways convert L-tyrosine into melanin through the use of numerous
"intermediate molecules" that are systematically modified into the end product.
Upon exposure to UV radiation, DNA damage triggers cytokines, growth factors
and other inflammatory factors to stimulate melanin production.
Melanocytes, by increasing the production of intracellular nitric oxide (NO),
they trigger signal transduction cascades to initiate melanogenesis through a
series of oxidative reactions involving the amino acid tyrosine in the presence
of the enzyme tyrosinase.
The process of melanin synthesis
• DHICA-Dihydroxyindole Carboxylic acid
• DOPA-Dihydroxyphenylalanine
1 . Synthesisof melanin.
i. Melanin pigment gives the black colour to the skin and hair
Tyrosinase and tyrosine hydroxylase:
Both these enzymes will add hydroxyl group to tyrosine to produce
dihydroxy phenylalanine (DOPA). Tyrosinase is present in melanoblasts.
The enzyme produces DOPA, which is used for melanin synthesis.
Tyrosine hydroxylase is present in adrenal medulla and the DOPA thus
generated is used for epinephrine synthesis. Thus even in tyrosinase-
deficient person (albinism), epinephrine synthesis is normal
Melanocytes in the deeper layers of epidermis synthesise melanin in
granular form in melano-somes. The extracellular granules are later
dispersed under the influence of melanocyte stimulating hormone
(MSH). Alpha MSH has 13 amino acids, which constitute the amino
terminal part of ACTH. Therefore MSH has weak ACTH activity and
ACTH has weak MSH activity.
Clinical applications of Melanin:
i. Copper deficiency: Since tyrosinase is a copper containing enzyme, there may be
disturbances in pigmentation during copper deficiency. Hair synthesised at the time
of deficiency may be depigmented. If copper deficiency is intermittent, alternate
black and white regions may be seen in the hair .
ii.Malignant Melanoma: Melanoblasts, especially in junctional naevi, may multiply to
give rise to malignant melanoma. Melanogen may be excreted through urine in such
conditions. Such urine if kept in a test tube, the upper part of the tube becomes black
due to oxidation to melanin.
iii. Leukoderma: When tyrosinase or melanin forming
cells or both are absent from epidermis, leukoderma
(white patches) results. Graying of hair is also due to the
disappearance of melanocytes from the hair root.
iv. Albinism: Albinism and leukoderma are different.
In albinism, tyrosinase is absent in melanocytes all over
the body .
Photoprotection
"The term Photoprotection designates the mechanisms that nature has
developed to minimize the damages that the human body suffers when
exposed to UV-irradiation.
Photoprotection of the human skin is achieved by extremely efficient internal
conversion of DNA, proteins and melanin. Internal conversion is a
photochemical process that converts the energy of the UV-photon into small
amounts of heat.
This small amount of heat is harmless. If the energy of the UV-photon were not
transformed into heat, then it would lead to the generation of free radicals or
other harmful reactive chemical species (e.g. singlet oxygen, or hydroxyl
radical).“
VITAMIN D AND MELANIN
There is a relationship between the amount of melanin in your skin and vitamin
D levels. Your body can synthesize vitamin D when your skin is exposed to
direct sunlight.
Because melanin blocks the effects of sunlight, increased levels of melanin can
impair your ability to make new vitamin D.
As a result, people with dark skin often have lower levels of vitamin D than
lighter-skinned people.
Albinism
Albinism is a group of genetic conditions that
causes a lack of pigment. It can affect only
the eyes or both the eyes and skin. Most
types of albinism are inherited when an
individual receives the albinism gene from
both parents.
Description
• Due to the defect in tyrosine metabolism it results in a deficiency of
melanin production and partial or full absence of pigment from the skin,
hair, and eyes
• It may be inherited by one of several modes: autosomal recessive,
autosomal dominant.
• Affected people may appear to have white hair, skin & iris color. They
may have vision defects and photophobia.
• Oculocutaneous albinism is most severe form resulting from a deficiency
of tyrosinase activity, causing a total absence of pigment from the hair,
eyes & skin
Causes
• Albinism is caused by an alteration of the gene that regulates the
melanin pigment synthesis.
Symptoms
• Absence of pigment from the hair, skin, or iris of eyes
• Lighter than normal skin and hair or complete albinism
• Most forms of complete albinism have some of the following possible
symptoms:
– Rapid eye movements
– Strabismus (eyes not tracking properly)
– Photophobia (avoidance of light because of discomfort)
– Decreased visual acuity
– Functional blindness
Complications
• Skin cancer
• Decreased vision, blindness
hyperpigmentation
hyperpigmentation is the darkening of an area
of skin or nails caused by increased melanin.
Hyperpigmentation is a common, usually
harmless condition in which patches of skin
become darker in color than the normal
surrounding skin.
Causes
Hyperpigmentation may be caused by sun damage, inflammation, or other skin
injuries, including those related to acne vulgaris.
Many forms of hyperpigmentation are caused by an excess production
of melanin.
As the body ages, melanocyte distribution becomes less diffuse and its
regulation less controlled by the body. UV light stimulates melanocyte activity,
and where concentrations of the cells are denser than surrounding areas,
hyperpigmentation is effected.
