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91.
Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel. 总被引:11,自引:0,他引:11
A I McClatchey D McKenna-Yasek D Cros H G Worthen R W Kuncl S M DeSilva D R Cornblath J F Gusella R H Brown 《Nature genetics》1992,2(2):148-152
Mutations in the skeletal muscle sodium channel gene (SCN4A) have been described in paramyotonia congenita (PMC) and hyperkalaemic periodic paralysis (HPP). We have found two mutations in SCN4A which affect regions of the sodium channel not previously associated with a disease phenotype. Furthermore, affected family members display an unusual mixture of clinical features reminiscent of PMC, HPP and of a third disorder, myotonia congenita (MC). The highly variable individual expression of these symptoms, including in some cases apparent non-penetrance, implies the existence of modifying factors. Mutations in SCN4A can produce a broad range of phenotypes in muscle diseases characterized by episodic abnormalities of membrane excitability. 相似文献
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TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function 总被引:27,自引:0,他引:27
Reiser J Polu KR Möller CC Kenlan P Altintas MM Wei C Faul C Herbert S Villegas I Avila-Casado C McGee M Sugimoto H Brown D Kalluri R Mundel P Smith PL Clapham DE Pollak MR 《Nature genetics》2005,37(7):739-744
Progressive kidney failure is a genetically and clinically heterogeneous group of disorders. Podocyte foot processes and the interposed glomerular slit diaphragm are essential components of the permeability barrier in the kidney. Mutations in genes encoding structural proteins of the podocyte lead to the development of proteinuria, resulting in progressive kidney failure and focal segmental glomerulosclerosis. Here, we show that the canonical transient receptor potential 6 (TRPC6) ion channel is expressed in podocytes and is a component of the glomerular slit diaphragm. We identified five families with autosomal dominant focal segmental glomerulosclerosis in which disease segregated with mutations in the gene TRPC6 on chromosome 11q. Two of the TRPC6 mutants had increased current amplitudes. These data show that TRPC6 channel activity at the slit diaphragm is essential for proper regulation of podocyte structure and function. 相似文献
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Congenital muscular dystrophy: molecular and cellular aspects 总被引:8,自引:0,他引:8
Jimenez-Mallebrera C Brown SC Sewry CA Muntoni F 《Cellular and molecular life sciences : CMLS》2005,62(7-8):809-823
The congenital muscular dystrophies are a clinically and genetically heterogeneous group of neuromuscular disorders. Each form has a characteristic phenotype, but there is overlap between some entities and their classification is based on a combination of clinical features and the primary or secondary protein defect. Recent studies have identified the genetic basis of a number of congenital muscular dystrophies (11 genes in total) and have recognised a novel pathological mechanism that highlights the importance of the correct posttranslational processing of proteins, in particular -dystroglycan. Diagnosis of these conditions has been aided by the availability of specific antibodies for each protein and a better understanding of the protein changes that accompany each condition. In this review we present the major molecular, clinical and diagnostic aspects of each group of congenital muscular dystrophy with an emphasis in the more recent developments.Received 11 December 2004; accepted 15 December 2004 相似文献
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