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A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel.

Abstract：

:Catecholamine-induced polymorphic ventricular tachycardia (PVT) is characterized by episodes of syncope, seizures, or sudden death, in response to physical activity or emotional stress. Two modes of inheritance have been described: autosomal dominant and autosomal recessive. Mutations in the ryanodine receptor 2 gene (RYR2), which encodes a cardiac sarcoplasmic reticulum (SR) Ca(2+)-release channel, were recently shown to cause the autosomal dominant form of the disease. In the present report, we describe a missense mutation in a highly conserved region of the calsequestrin 2 gene (CASQ2) as the potential cause of the autosomal recessive form. The CASQ2 protein serves as the major Ca(2+) reservoir within the SR of cardiac myocytes and is part of a protein complex that contains the ryanodine receptor. The mutation, which is in full segregation in seven Bedouin families affected by the disorder, converts a negatively charged aspartic acid into a positively charged histidine, in a highly negatively charged domain, and is likely to exert its deleterious effect by disrupting Ca(2+) binding.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Lahat H,Pras E,Olender T,Avidan N,Ben-Asher E,Man O,Levy-Nissenbaum E,Khoury A,Lorber A,Goldman B,Lancet D,Eldar M

doi

10.1086/324565

subject

Has Abstract

pub_date

2001-12-01 00:00:00

pages

1378-84

issue

6

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)61266-X

journal_volume

69

pub_type

杂志文章

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