Albinism historical perspective

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shadan Mehraban, M.D.[2]

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Overview

Albinism was first discovered in 1908 by a British physician named Sir Archibald Edward Garrod. At first, it was believed that albinism is caused by a lack of melanocytes. In late 1950, it was proved that albinism is caused by tyrosine kinase inactivity.

Historical Perspective

Discovery

  • The discovery of albinism occured as the following: [1] [2] [3]
  • Albinism, from the Latin Albu, means white
  • In 1908, a British physician named Sir Archibald Edward Garrod discovered Albinism
  • Sir Archibald Edward Garrod stated that albinism is caused by failure of an intercellular activity
  • In late 1950, it was proved that albinism is caused by tyrosine kinase inactivity, not due to lack of melanocytes
  • Between 1920-1935, British physiologist H.S.Raper did studies on melanogenesis
  • In 1966, Snowflack was the first case of albino gorilla which was discovered

References

  1. Oetting WS, Fryer JP, Shriram S, King RA (2003). "Oculocutaneous albinism type 1: the last 100 years". Pigment Cell Res. 16 (3): 307–11. doi:10.1034/j.1600-0749.2003.00045.x. PMID 12753405.
  2. Martínez-Arias R, Comas D, Andrés A, Abelló MT, Domingo-Roura X, Bertranpetit J (2000). "The tyrosinase gene in gorillas and the albinism of 'Snowflake'". Pigment Cell Res. 13 (6): 467–70. doi:10.1034/j.1600-0749.2000.130609.x. PMID 11153699.
  3. Oetting WS (2000). "The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation". Pigment Cell Res. 13 (5): 320–5. doi:10.1034/j.1600-0749.2000.130503.x. PMID 11041207.

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