A missense mutation makes a mess of Ca2+ sensing
نویسنده
چکیده
A new JGP study shows how a disease-causing mutation in RyR2 dramatically alters channel behavior.
منابع مشابه
A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene. The main feature of this disorder is muscle membrane hyperexcitability. Here, we report a 59-year male patient suffering from congenital myotonia. He had transient generalized myotonia, which...
متن کاملA Novel Missense Mutation in the ALDH13 Gene Causes Anophthalmia in Two Unrelated Iranian Consanguineous Families
Anophthalmia or microphthalmia (A/M) is a rare group of congenital/developmental ocular malformations, characterized by absent or small eye within the orbit affecting one or both eyes. It has complex etiology with chromosomal, monogenic with high heterogeneity, and environmental causes. We performed genome SNP-array analysis followed by autozygosity mapping and sequencing in the members o...
متن کاملNovel Missense Mitochondrial ND4L Gene Mutations in Friedreich's Ataxia
Objective(s) The mitochondrial defects in Friedreich's ataxia have been reported in many researches. Mitochondrial DNA is one of the candidates for defects in mitochondrion, and complex I is the first and one of the largest catalytic complexes of oxidative phosphorylation (OXPHOS) system. Materials and Methods We searched the mitochondrial ND4L gene for mutations by TTGE and sequencing on 30...
متن کاملA Missense Mutation in the HMNT Gene Responsible for Autosomal Recessive Intellectual Disability in an Iranian Family with Consanguineous Marriage
Background and Aims: One of the neurotransmitters in the brain is Histamine which acts as several biological mechanism regulators like inflammation, gastric acid secretion, and neuromodulation. Inactivation of Histamine occurs by histamine N-methyltransferase (HNMT) enzyme. The HNMT transfers a methyl group from S-adenosyl-L-methionine to Histamine and is the main process for the termination of...
متن کاملA missense mutation makes a mess of Ca2+ sensing
175 JGP | Research News The human heart beats more than 2.5 billion times over the course of an average lifetime. The ryanodine receptor type 2 (RyR2) helps regulate these beats, and mutations in this ion channel cause catecholamine-induced polymorphic ventricular tachycardia (CPVT). Uehara et al. describe how one particular disease-causing mutation dramatically affects RyR2 behavior (1). The a...
متن کامل