A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome

• Published in: Annals of neurology Vol. 45; no. 1; pp. 130 - 133
• Main Authors: De Coo, I. F. M., Renier, W. O., Ruitenbeek, W., Ter Laak, H. J., Bakker, M., Schägger, H., Van Oost, B. A., Smeets, H. J. M.
• Format: Journal Article
• Language: English
• Published: New York John Wiley & Sons, Inc 01-01-1999; Willey-Liss
• Subjects: Adult; Biological and medical sciences; Blotting, Southern; Cytochrome b Group - genetics; DNA Mutational Analysis; Electron Transport Complex III - genetics; Gene Deletion; Humans; Male; Medical sciences; MELAS Syndrome - complications; MELAS Syndrome - genetics; Mitochondria - genetics; Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis; Neurology; Oxidative Phosphorylation; Parkinson Disease, Secondary - complications; Parkinson Disease, Secondary - genetics; Phenotype; Human; Male; Genetic determinism; Case study; Parkinsonism; Mitochondria; Phenotype; Cytochrome b; Gene; Encephalopathy; Young adult; Deletion; Mitochondrial myopathy; Diagnosis; Neurological disorder; MELAS syndrome
• ISSN: 0364-5134; 1531-8249
• DOI: 10.1002/1531-8249(199901)45:1<130::AID-ART21>3.0.CO;2-Z

Five patients with diminished activity of complex III of the mitochondrial respiratory chain have been screened for mutations in the mitochondrial cytochrome b (cyt b) gene. In 1 patient, a young boy with an akinetic rigid syndrome and a mitochondrial encephalomyopathy with lactic acidosis and stroke‐like episodes (MELAS), a novel 4–base pair deletion was identified. This mutation in this highly conserved gene is considered to be pathogenic since it is a heteroplasmic frame shift mutation predicted to lead to a truncated protein. Ann Neurol 1999;45:130–133