Open AccessThe low abundance of clonally expanded mitochondrial DNA point mutations in aged substantia nigra neurons
Author(s) -
Reeve Amy K.,
Krishnan Kim J.,
Taylor Geoffrey,
Elson Joanna L.,
Bender Andreas,
Taylor Robert W.,
Morris Christopher M.,
Turnbull Doug M.
Publication year - 2009
Publication title -
aging cell
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.103
H-Index - 140
eISSN - 1474-9726
pISSN - 1474-9718
DOI - 10.1111/j.1474-9726.2009.00492.x
Subject(s) - mitochondrial dna , biology , point mutation , cytochrome c oxidase , substantia nigra , genetics , mutation , mitochondrial respiratory chain , mitochondrion , microbiology and biotechnology , gene , neuroscience , dopamine , dopaminergic
Summary Clonally expanded mitochondrial DNA (mtDNA) deletions accumulate with age in human substantia nigra (SN) and high levels cause respiratory chain deficiency. In other human tissues, mtDNA point mutations clonally expand with age. Here, the abundance of mtDNA point mutations within single SN neurons from aged controls was investigated. From 31 single cytochrome c oxidase normal SN neurons, only one clonally expanded mtDNA point mutation was identified, suggesting in these neurons mtDNA point mutations occur rarely, whereas mtDNA deletions are frequently observed. This contrasts observations in mitotic tissues and suggests that different forms of mtDNA maintenance may exist in these two cell types.