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Characterization of melanosomes and melanin in Japanese patients with Hermansky–Pudlak syndrome types 1, 4, 6, and 9
Author(s) -
Okamura Ken,
Abe Yuko,
Araki Yuta,
Wakamatsu Kazumasa,
Seishima Mariko,
Umetsu Takafumi,
Kato Atsushi,
Kawaguchi Masakazu,
Hayashi Masahiro,
Hozumi Yutaka,
Suzuki Tamio
Publication year - 2018
Publication title -
pigment cell and melanoma research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.618
H-Index - 105
eISSN - 1755-148X
pISSN - 1755-1471
DOI - 10.1111/pcmr.12662
Subject(s) - melanosome , hermansky–pudlak syndrome , oculocutaneous albinism , melanin , lipofuscin , albinism , exome sequencing , medicine , biology , dermatology , pathology , genetics , gene , lung , phenotype , pulmonary fibrosis
Summary Hermansky–Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism (OCA), a bleeding tendency, and ceroid deposition. Most of the causative genes for HPS encode subunits of the biogenesis of lysosome‐related organelles complex (BLOC). In this study, we identified one patient each with HPS4, HPS6, and HPS9 by whole‐exome sequencing. Next, we analyzed hair samples from the three patients and representative patients with HPS1 and controls using electron microscopy and chemical methods. All HPS patients had fewer, smaller, and more immature melanosomes than healthy controls. Further, all patients showed reduced total melanin content and increased levels of benzothiazine‐type pheomelanin. The results of this study demonstrate the impact of the dysfunctions of BLOCs on the maturation of melanosomes and melanin levels and composition through analysis of their hair samples.