Premium
Widespread tissue distribution of multiple mitochondrial DNA deletions in familial mitochondrial myopathy
Author(s) -
Kawashima Shingo,
Ohta Shigeo,
Kagawa Yasuo,
Yoshida Mitsuo,
Nishizawa Masatoyo
Publication year - 1994
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.880170707
Subject(s) - mitochondrial dna , mitochondrial myopathy , biology , southern blot , polymerase chain reaction , microbiology and biotechnology , genetics , myopathy , skeletal muscle , heteroplasmy , dna , gene , anatomy
We used Southern blot analysis and the polymerase chain reaction to analyze the tissue distribution of multiple mitochondrial DNA (mtDNA) deletions in a 45‐year‐old man with familial mitochondrial myopathy. Southern blots showed two major types of abnormal mtDNA with approximately 4‐ and 8‐kilobase deletions in the skeletal and extraocular muscles. The amount of muscle mtDNA with deletions correlated approximately with the severity of muscle involvement. The polymerase chain reaction showed multiple mtDNA deletions even in clinically asymptomatic tissues, the pattern of which differed with the type of tissue. Nucleotide sequences of several mtDNAs with deletions showed that the deletions were flanked by direct repeats consisting of 3 to 12 nucleotides. Leukocytes from the patient's affected sister and his mother exhibited the same mtDNA deletion pattern. Most of the same deletions were present in leukocytes obtained from the patient's father. © 1994 John Wiley & Sons, Inc.