期刊
JOURNAL OF HUMAN GENETICS
卷 55, 期 7, 页码 400-402出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/jhg.2010.37
关键词
mutation; neuropathy; skeletal dysplasia; TRPV4; TRPV4-pathy
资金
- Ministry of Education, Culture, Sports and Science of Japan [21249024]
- Research on Child Health and Development [20-S-3]
- Ministry of Health, Labor and Welfare of Japan (Measures for Intractable Diseases) [046]
- Grants-in-Aid for Scientific Research [21249024] Funding Source: KAKEN
Transient receptor potential cation channel, subfamily V, member 4 (TRPV4) is a calcium-permeable nonselective cation channel of unknown biological function. TRPV4 mutation was first identified in brachyolmia, and then in a spectrum of autosomal-dominant skeletal dysplasias, which includes Kozlowski type of spondylometaphyseal dysplasia, metatropic dysplasia, Maroteaux type of spondyloepiphyseal dysplasia and parastremmatic dysplasia. Recently, TRPV4 mutation has also been identified in a spectrum of neuromuscular diseases that includes congenital distal spinal muscular atrophy (SMA), scapuloperoneal SMA, and hereditary motor and sensory neuropathy type IIC. These diverse spectrums of diseases compose a novel channelopathy, TRPV4-pathy, which could further include polygenic traits such as serum sodium concentration and a chronic obstructive pulmonary disease. In this review, we clarified the TRPV4 mutation spectrum, and discussed the phenotypic complexity of TRPV4-pathy and its pathogenic mechanisms. TRPV4-pathy may extend further to other monogenic and polygenic diseases. Journal of Human Genetics (2010) 55, 400-402; doi:10.1038/jhg.2010.37; published online 27 May 2010
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