Albinism and Immunity: What's the Link?

Author: Griffiths G.M.

Source: Current Molecular Medicine, Volume 2, Number 5, August 2002 , pp. 479-483(5)

Publisher: Bentham Science Publishers

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Abstract:

A small number of inherited diseases show a combination of immunological and pigmentation defects. Chediak-Higashi, Griscellis and Hermansky-Pudlak syndromes are all autosomal recessive diseases with these characteristics. Recent advances in both the identification of the genes giving rise to these diseases and the cell biology of immune cells and melanocytes have begun to reveal the molecular links between immunodeficiencies and albinism. These studies identify key proteins, such as Rab27a, which are critical for secretion of specialised granules found in melanocytes and immune cells. The granules of these cells are modified lysosomes termed “secretory lysosomes”. These studies reveal that secretory lysosomes use specialised mechanisms of secretion, not found in other cell types, which explains the selective defects in these diseases.

Keywords: Albinism; melanocytes; immunodeficiencies

Language: English

Document Type: Review article

DOI: http://dx.doi.org/10.2174/1566524023362258

Publication date: 2002-08-01

More about this publication?

Current Molecular Medicine is an interdisciplinary journal focused on providing the readership with current and comprehensive reviews on fundamental molecular mechanisms of disease pathogenesis, the development of molecular-diagnosis and/or novel approaches to rational treatment. The reviews should be of significant interest to basic researchers and clinical investigators in molecular medicine. Periodically the journal will invite guest editors to devote an issue on a basic research area that shows promise to advance our understanding of the molecular mechanism(s) of a disease or has potential for clinical applications.