Sequence analysis of the entire mitochondrial genome in Parkinson's disease.

Show simple item record Vives-Bauzà, Cristòfol Andreu, Antonio L. Manfredi, Giovanni Beal, M. Flint Janetzky, Bernd Gruenewald, Thomas H. Lin, Michael T. 2018-10-16T10:27:41Z
dc.description.abstract [eng] The pathogenesis of Parkinson's disease (PD) is largely unknown. Indirect evidence suggests that mutations in mitochondrial DNA (mtDNA) might play a role, but previous studies have not consistently associated any specific mutations with PD. However, these studies have generally been confined to limited areas of the mitochondrial genome. We therefore sequenced the entire mitochondrial genome from substantia nigra of 8 PD and 9 control subjects. Several sequence variants were distributed differently between PD and control subjects, but all were previously reported polymorphisms. Several secondary LHON mutations were found, as well as a number of novel missense mutations, but all were rare and did not differ between PD and control subjects. Finally, PD and control subjects did not differ in the total number of all mutations, nor the total number of missense mutations. Thus, mtDNA involvement in PD, if any, is likely to be complex and should be reconsidered carefully.
dc.format application/pdf
dc.relation.isformatof Versió postprint del document publicat a:
dc.relation.ispartof Biochemical and Biophysical Research Communications, 2002, vol. 290, num. 5, p. 1593-1601
dc.subject.classification 576 - Biologia cel·lular i subcel·lular. Citologia
dc.subject.other 576 - Cellular and subcellular biology. Cytology
dc.title Sequence analysis of the entire mitochondrial genome in Parkinson's disease.
dc.type info:eu-repo/semantics/article
dc.type info:eu-repo/semantics/acceptedVersion 2018-10-16T10:27:41Z info:eu-repo/date/embargoEnd/2075-01-01
dc.embargo 2075-01-01
dc.rights.accessRights info:eu-repo/semantics/embargoedAccess

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