- November 25th 2011
TUESDAY, March 17 -- A new syndrome that features seizures, lack of coordination, developmental delay and hearing loss has been identified by Yale University researchers.
The syndrome was identified during a genetic analysis of 600 people for causes of salt-handling defects in the kidney that lead to high or low blood pressure. Five people from four families in Afghanistan, Canada, Great Britain and Turkey were found to have a range of neurological problems, in addition to a salt-handling defect. Further analysis revealed that all five had mutations in the gene KCNJ10, a potassium channel expressed in the brain, inner ear and kidney.
In the kidney, the mutation affects the maintenance of the kidney's sodium pump, the major driver of salt reabsorption. In the brain, the mutation interferes with the ability to clear neurotransmitters and potassium from synapses, resulting in seizures. In the inner ear, the mutation affects sound transduction.
The researchers labeled the new synd [Read more]