Synthesis of Melanin and its Disturbances
- Melanin is produced by mature melanocytes. The biosynthesis of melanin is a complex which implicateds numerous enzymes which include tyrosinase, TRP1, TRP2…Genetic disturbances of these enzymes can result in a pigmentary dilution which translates clinically with depigmentation as is seen for example in oculocutaneous albinism.
- The production of melanin is done within melanocytes in organelles called melanosomes.
- The impairement of the migration of the vesicles which aggregate to create these organelles can also lead to a pigmentary dilution such as that seen in Chediak-Higashi syndrome and Hermansky Pudlak syndrome.
- Impaired migration of melanosomes to the dendritic processes of the melanocytes leads to Griscelli syndrome.
Contributors:
Dr Christophe HSU – dermatologist. Geneva, Switzerland
Source of Information: Goh BK. The Science Behind Pigmentary Disorders. NSC Dermatology Update 2012, Singapore
Category : Albinism - Modifie le 05.13.2012Category : Albinisme - Modifie le 05.13.2012Category : Chediak-Higashi Syndrome - Modifie le 05.13.2012Category : Griscelli Syndrome - Modifie le 05.13.2012Category : Hermansk Pudlak Syndrome - Modifie le 05.13.2012Category : Syndrome d'Hermansky Pudlak. - Modifie le 05.13.2012Category : Syndrome de Chediak-Higashi - Modifie le 05.13.2012Category : Syndrome de Griscelli - Modifie le 05.13.2012Category : Synthesis or Melanin and its Disturbances - Modifie le 05.13.2012