De Palma Sara, Morandi Lucia, Mariani Elena, Begum Shajna, Cerretelli Paolo, Wait Robin, Gelfi Cecilia
Institute of Molecular Bioimaging and Physiology, CNR, Via Fratelli Cervo 93, I-20090 Segrate, Milan, Italy.
Proteomics. 2006 Jan;6(1):379-85. doi: 10.1002/pmic.200500098.
Mutations in dysferlin gene cause several types of muscular dystrophy in humans, including the limb-girdle muscular dystrophy type 2B and the distal muscular dystrophy of Miyoshi. The dysferlin gene product is a membrane-associated protein belonging to the ferlins family of proteins. The function of the dysferlin protein and the cause of deterioration and regression of muscle fibres in its absence, are incompletely known. A functional clue may be the presence of six hydrophilic domains, C2, that bind calcium and mediate the interaction of proteins with cellular membranes. Dysferlin seems to be involved in the membrane fusion or repair. Molecular diagnosis of dysferlinopathies is now possible and the types of gene alterations that have been characterized so far include missense mutations, deletions and insertions.
dysferlin基因突变会导致人类多种类型的肌肉萎缩症，包括2B型肢带型肌肉萎缩症和宫下型远端肌肉萎缩症。dysferlin基因产物是一种与膜相关的蛋白质，属于ferlins蛋白家族。dysferlin蛋白的功能以及在其缺失时肌肉纤维退化和萎缩的原因尚不完全清楚。一个功能性线索可能是存在六个亲水区，即C2结构域，它们能结合钙并介导蛋白质与细胞膜的相互作用。dysferlin似乎参与了膜融合或修复过程。目前dysferlin病的分子诊断已成为可能，迄今为止已鉴定出的基因改变类型包括错义突变、缺失和插入。
