Swank R T, Novak E K, McGarry M P, Rusiniak M E, Feng L
Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, New York 14263, USA.
Pigment Cell Res. 1998 Apr;11(2):60-80. doi: 10.1111/j.1600-0749.1998.tb00713.x.
Hermansky Pudlak Syndrome (HPS) is a recessively inherited disease affecting the contents and/or the secretion of several related subcellular organelles including melanosomes, lysosomes, and platelet dense granules. It presents with disorders of pigmentation, prolonged bleeding, and ceroid deposition, often accompanied by severe fibrotic lung disease and colitis. In the mouse, the disorder is clearly multigenic, caused by at least 14 distinct mutations. Studies on the mouse mutants have defined the granule abnormalities of HPS and have shown that the disease is associated with a surprising variety of phenotypes affecting many tissues. This is an exciting time in HPS research because of the recent molecular identification of the gene causing a major form of human HPS and the expected identifications of several mouse HPS genes. Identifications of mouse HPS genes are expected to increase our understanding of intracellular vesicle trafficking, lead to discovery of new human HPS genes, and suggest diagnostic and therapeutic approaches toward the more severe clinical consequences of the disease.
赫尔曼斯基-普德拉克综合征（HPS）是一种隐性遗传病，会影响包括黑素小体、溶酶体和血小板致密颗粒在内的几种相关亚细胞器的内容物和/或分泌。它表现为色素沉着紊乱、出血时间延长和类蜡质沉积，常伴有严重的肺纤维化疾病和结肠炎。在小鼠中，这种疾病显然是多基因的，由至少14种不同的突变引起。对小鼠突变体的研究已经明确了HPS的颗粒异常，并表明该疾病与影响许多组织的多种惊人表型有关。由于最近在分子层面鉴定出了导致人类主要形式HPS的基因，并且有望鉴定出几种小鼠HPS基因，因此现在是HPS研究的激动人心时刻。预计小鼠HPS基因的鉴定将增进我们对细胞内囊泡运输的理解，促使发现新的人类HPS基因，并为该疾病更严重的临床后果提供诊断和治疗方法。
