Dynamin 2 (DNM2) as Cause of, and Modifier for, Human Neuromuscular Disease

摘要: Dynamin 2 (DNM2) belongs to a family of large GTPases that are well known for mediating membrane fission by oligomerizing at the neck invaginations. Autosomal dominant mutations in ubiquitously expressed DNM2 cause discrete neuromuscular diseases: autosomal centronuclear myopathy (ADCNM) and intermediate Charcot-Marie-Tooth neuropathy (CMT). CNM CMT may affect distinct manners: protein hyperactivity with elevated GTPase activities, while could impair lipid binding activity. is also modifier X-linked recessive forms CNM, as levels upregulated animal models patient muscle samples. Strikingly, reducing has been shown revert phenotypes preclinical CNM. As emerges key player pathogenesis, role(s) skeletal remains unclear. This review aims provide insights into potential pathomechanisms related DNM2-CNM mutations, discuss exciting outcomes current future therapeutic approaches targeting hyperactivity.