Dr. Hans Spelbrink, Dept. of Pediatrics in collaboration with NCMD researchers Prof. Martijn Huynen, Prof. J. Smeitink, Dr. M. Janssen and Dr. R. Rodenburg, has been awarded a 250.000 EUR grant from the Prinses Beatrix Spierfonds towards the study and elucidation of mitochondrial myopathies, in a project entitled ‘A toolbox of nucleoid associated proteins in mitochondrial myopathy diagnosis.’
Mitochondrial myopathies (MM) are disorders of varying etiology and age of onset, and include a variety of more or less severe often multisystemic phenotypes, but typically include muscle and neurological defects. They are usually characterized by isolated or combined OXPHOS deficiencies, caused by mutations in mtDNA, mutations in nuclear genes coding for OXPHOS structural or assembly proteins, or proteins in mitochondrial dynamics, mtDNA maintenance and gene expression. Large subsets of MM genes are involved in mtDNA maintenance and gene expression. Molecular MM diagnosis by exome sequencing can thus provide important insight not just in disease etiology, it also identifies potential novel proteins giving futher insight in poorly understood cellular processes. Vice versa identification of mtDNA maintenance and gene expression proteins via biochemical methods provides an important tool to improve exome sequence based diagnostics by supplying prioritized gene lists used as first-line diagnostics. The awarded grant money will exploit the cross-fertilization between the mitochondrial disease diagnostics pipeline, mass-spectrometry and bioinformatics based methods for protein identification as well as protein characterization to advance our understanding of mitochondrial myopathies.
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