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Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies
Author(s) -
Zeviani M.,
Gallera C.,
Pannacci M.,
Uziel G.,
Prelle A.,
Servidei S.,
DiDonato S.
Publication year - 1990
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410280118
Subject(s) - mitochondrial dna , mitochondrial myopathy , human mitochondrial genetics , biology , dna , genetics , gene
By using a combination of Southern blot hybridization analysis, polymerase–chain reaction amplification, and direct nucleotide sequencing, we studied deletions of mitochondrial DNA (mtDNA) in several nonfamilial patients with progressive external ophthalmoplegia and Kearns‐Sayre syndrome, and in some of their direct relatives. Results suggest that the heteroplasmic mtDNA populations are already present at a very early stage of development, and that there is no direct transmission of mtDNA heteroplasmy by maternal inheritance.