Domenech Enric, Gomez-Zaera Montse, Nunes Virginia
Centre de Genetica Medica i Molecular-Institut de Recerca Oncologica (CGMM-IRO)-IDIBELL, Spain.
Pediatr Endocrinol Rev. 2006 Mar;3(3):249-57.
Wolfram syndrome (WS, OMIM 22233), is a rare, autosomal recessive, and neurodegenerative disease. The syndrome is also known as DIDMOAD, the acronym for diabetes insipidus diabetes mellitus, optic atrophy and deafness, which summarizes the main clinical features, among many others, in WS patients. The gene associated with the syndrome, called WFS1, is located in the 4p16.1 region. The WFS1 gene encodes for a transmembrane protein located in the endoplasmic reticulum. Although the function of the WFS1 protein remains unknown, it is thought to be related with intracellular calcium homeostasis. The pattern of presentation of WS suggested the existence of mitochondrial impairment. Mitochondrial DNA rearrangements were detected in some patients, thus confirming that hypothesis. Recently, a particular WS phenotype has been described linked with the long arm of chromosome 4. This work aims to summarize the current knowledge about this disease that causes a heterogeneous phenotype and has a complex molecular aetiology.
沃夫勒姆综合征（WS，OMIM 22233）是一种罕见的常染色体隐性神经退行性疾病。该综合征也被称为DIDMOAD，是尿崩症、糖尿病、视神经萎缩和耳聋的首字母缩写，概括了WS患者众多主要临床特征中的一部分。与该综合征相关的基因名为WFS1，位于4p16.1区域。WFS1基因编码一种位于内质网的跨膜蛋白。尽管WFS1蛋白的功能尚不清楚，但人们认为它与细胞内钙稳态有关。WS的表现模式提示存在线粒体损伤。在一些患者中检测到线粒体DNA重排，从而证实了这一假设。最近，已经描述了一种与4号染色体长臂相关的特殊WS表型。这项工作旨在总结目前关于这种导致异质性表型且具有复杂分子病因的疾病的知识。
