Novel Genetic mutations discovered that cause neuro-muscular disease in children

Mutations in a gene causing mixed neurological and muscular disease in children have been found for the first time. Researchers at UCL and the University of Leeds have identified an entirely novel mechanism responsible for a childhood onset neuromuscular diseases with associated brain involvement. The research identified mutations of the gene MICU1 in a group of children affected by this previously undescribed condition, and provides the first evidence that a defective MICU1 gene can cause disease 'in man'. The researchers used a technique called exome sequencing to analyse the genes of 15 children with similar clinical features and found two different mutations in the MICU1 gene. The protein product of the MICU1 gene is found in mitochondria - the "batteries" of the cell, which are essential in generating energy for cells and found in large numbers in nerve and muscle cells, which have high energy demands. The MICU1 gene contains the genetic blueprint for a protein that helps regulate mitochondrial calcium balance. To function properly, mitochondria need a certain amount of calcium.