Neurology Medical News about mutations in KCNJ10;seizures,sensorineural deafness

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Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10
Proceedings of the National Academy of Sciences of the United States of America, 04/09/09

Scholl UI et al. – Findings define a unique human syndrome and establish an essential role of basolateral K+ channels in renal electrolyte homeostasis.

Methods

Description of members of 4 kindreds with a previously unrecognized syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia)
Direct DNA sequencing of KCNJ10, encoding an inwardly rectifying K+ channel

Results

Analysis of linkage localizes putative causative gene to a 2.5-Mb segment of chromosome 1q23.2–23.3
Direct DNA sequencing shows previously unidentified missense or nonsense mutations on both alleles in all affected subjects
Mutations alter highly conserved amino acids and are absent among control chromosomes
Many of these mutations cause loss of function in related K+ channels
Loss-of-function mutations in KCNJ10 cause the syndrome "SeSAME"
KCNJ10 expression in brain and spinal cord glia uptakes K+ released by neuronal repolarization, in cochlea helps generate endolymph
KCNJ10 expression found on basolateral membrane in the distal nephron
KCNJ10 may be required for normal salt reabsorption in distal convoluted tubule due to need for K+ recycling across basolateral membrane to enable Na+-K+-ATPase normal activity
Loss of this function accounts for observed electrolyte defects
Mice deficient for KCNJ10 show a related phenotype with seizures, ataxia, and hearing loss, further supporting the role of KCNJ10 in this syndrome

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