A New Gene that causes Mitochondrial Disease Discovered
November 22, 2013
Researchers in Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences have discovered that mutations in the genes of collagen types XV and XVIII lead to severe mitochondrial disorders and then degeneration of skeletal and cardiac muscles.
These findings were published online on February 20, 2013 in the journal The International Journal of Biochemistry & Cell Biology.
R. Momota and his colleagues have investigated Drosophila mutants to understand the pathogenesis of human diseases. They discovered that the mutants of collagen types XV and XVIII genes exhibited morphological changes in the cardiomyocytes and dysfunction of the skeletal muscles, which suggest the symptoms of mitochondrial disease. Collagen types XV and XVIII are proteins in the extracellular matrix. It is interesting to note that the causal factor of the disease is outside the mitochondrion, despite it being a mitochondrial disease. This could provide clues as to the underlying cause of the disease.
The research group has found that collagen types XV and XVIII affect the mitochondrial function through the receptor on the cell membrane, and the mutants' conditions are improved by the administration of drugs that inhibit the receptor. These drugs are already approved for human use, so therapy involving their usage is expected to be available soon.
Mototaka Senda, Ph.D.
Intellectual Property Office, Organization for Research Promotion and Collaboration, Okayama University
Fremont, California USA
Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama, Japan