Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes
نویسندگان
چکیده
منابع مشابه
Clinical and Molecular Genetic Analysis of Iranian Patients with Neonatal Diabetes demonstrating Mutations in KCNJ11 gene
Abstract We screened the KCNJ11 gene from 35 individuals clinically diagnosed with type 1 diabetes mellitus under the age of 6 months in 3 years duration. Six different heterozygous missense mutations were found in 7 of the 35 probands, which accounted for 20% of all individuals. A novel mutation W68R (No Locus, GU170814; 2009) was identified in the kir6.2, the pore-forming subunit of the KATP ...
متن کاملFunctional effects of mutations at F35 in the NH2-terminus of Kir6.2 (KCNJ11), causing neonatal diabetes, and response to sulfonylurea therapy.
Heterozygous mutations in the human Kir6.2 gene (KCNJ11), the pore-forming subunit of the ATP-sensitive K(+) channel (K(ATP) channel), cause neonatal diabetes. To date, all mutations increase whole-cell K(ATP) channel currents by reducing channel inhibition by MgATP. Here, we provide functional characterization of two mutations (F35L and F35V) at residue F35 of Kir6.2, which lies within the NH(...
متن کاملMutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.
Heterozygous mutations in the human Kir6.2 gene (KCNJ11), the pore-forming subunit of the ATP-sensitive K(+) channel (K(ATP) channel), are a common cause of neonatal diabetes. We identified a novel KCNJ11 mutation, R50Q, that causes permanent neonatal diabetes (PNDM) without neurological problems. We investigated the functional effects this mutation and another at the same residue (R50P) that l...
متن کاملPsychiatric morbidity in children with KCNJ11 neonatal diabetes
AIMS Mutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the pancreatic KATP channel, cause neonatal diabetes. KCNJ11 is also expressed in the brain, and ~ 20% of those affected have neurological features, which may include features suggestive of psychiatric disorder. No previous studies have systematically characterized the psychiatric morbidity in people with KCNJ11 neonatal dia...
متن کاملRelapsing diabetes can result from moderately activating mutations in KCNJ11.
Neonatal diabetes can either remit and hence be transient or else may be permanent. These two phenotypes were considered to be genetically distinct. Abnormalities of 6q24 are the commonest cause of transient neonatal diabetes (TNDM). Mutations in KCNJ11, which encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium channel (K(ATP)), are the commonest cause of permanent neonatal ...
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ژورنال
عنوان ژورنال: Pflügers Archiv
سال: 2006
ISSN: 0031-6768,1432-2013
DOI: 10.1007/s00424-006-0112-3