Multiple deletions of the mitochondrial DNA in polymyalgia rheumatica.
We analyzed the mitochondrial DNA of patients with polymyalgia rheumatica, a disease frequently associated with mitochondrial myopathy. In an attempt to study the deletions, we have developed a qualitative PCR method using a highly thermostable polymerase in order to amplify multiple mitochondrial DNA large fragments (up to 12 kb). PCR serves to observe both deleted and normal fractions of the mitochondrial DNA. We found multiple deletions of the mitochondrial DNA in all of the patient muscles. Although these muscles harbored many ragged red fibers, we found no point mutations of the tRNA(Leu)(UUR)) and the mutation at nucleotide position 8344 was not present.
Reynier
P
P
Laboratoire de Biochimie Médicale, Faculté de Médecine, Hôpital de la Timone, Marseille, France.
Pellissier
J F
JF
Harle
J R
JR
Malthiéry
Y
Y
D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D017931:DNA Primers; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D011111:Polymyalgia Rheumatica / Q000235:genetics*; D017384:Sequence Deletion
D017931:DNA Primers; D004272:DNA, Mitochondrial