黑素小体发生及转运机制与白化病

Biogenesis and Intracellular Transport of Melanosome and Albinism

黑素小体是合成和贮存黑色素的场所。黑素小体的发生、转运及黑色素的合成是一个复杂而精密的过程,包括黑素小体膜蛋白转运和正确定位、腔内pH值的调控、黑色素合成酶类发挥正常催化活性以及成熟的黑素小体沿微管微丝运输等环节。白化病各型致病基因所表达的异常蛋白TYR、P、TRP1、HPS1～3、CHS、MYO5A、Rab27a、MLPH,通过作用于上述一个或多个环节,影响黑素小体的发生、转运和黑色素合成,从而导致相应的临床表型。

Melanosomes are unique organelles within which melanin pigments are synthesized and stored, The biogenesis and intracellular movement of melanosomes and the synthesis of melanin pigments are a complex and precision process, including sorting and targeting of melanosomal proteins, regulation of lumenal pH, the normal catalytic activity of certain enzymes related to melanin synthesis and melanosome motility along microtubules and actin filaments, Any minor defect of this process may lead to congenital pigmentary disorders--albinism and syndromes of albinism.