title: No correlation between muscle A3243G mutation load and mitochondrial function in vivo.
abstract: The authors studied the relationship between the percentage level of A3243G mitochondrial DNA mutation and the degree of mitochondrial dysfunction in vivo in nine individuals from four pedigrees using phosphorus MRS in muscle. There was no significant correlation between mutation load and maximum rate of adenosine triphosphate production (V(max)). V(max) was normal in a subject with 32% A3243G in muscle, which is in contrast with a previous observation of markedly reduced V(max) in a patient with only 6% A3243G in muscle. Factors besides mutation load, such as nuclear genes, influence expression of the A3243G mutation in vivo.
authors.affiliation: Department of Neurology, the University of Newcastle upon Tyne, UK. P.F.Chinnery@ncl.ac.uk
authors.forename: P F
authors.initials: PF
authors.lastname: Chinnery
authors.forename: D J
authors.initials: DJ
authors.lastname: Taylor
authors.forename: D
authors.initials: D
authors.lastname: Manners
authors.forename: P
authors.initials: P
authors.lastname: Styles
authors.forename: R
authors.initials: R
authors.lastname: Lodi
mesh_terms: D000255:Adenosine Triphosphate / Q000378:metabolism*; D000328:Adult; D004272:DNA, Mitochondrial / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008875:Middle Aged; D017240:Mitochondrial Myopathies / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D018482:Muscle, Skeletal / Q000378:metabolism*; D010375:Pedigree; D010761:Phosphorus Radioisotopes; D017354:Point Mutation / Q000235:genetics*; D018709:Statistics, Nonparametric
chemical_list: D004272:DNA, Mitochondrial; D010761:Phosphorus Radioisotopes; D000255:Adenosine Triphosphate