Somatic mitochondrial DNA mutations in early Parkinson and incidental lewy body disease

Michael T. Lin; Ippolita Cantuti-Castelvetri; Kangni Zheng; Katie E. Jackson; Yong B. Tan; Thomas Arzberger; Andrew J. Lees; Rebecca A. Betensky; M. Flint Beal; David K. Simon

doi:10.1002/ana.23568

Somatic mitochondrial DNA mutations in early Parkinson and incidental lewy body disease

Michael T. Lin, Ippolita Cantuti-Castelvetri, Kangni Zheng, Katie E. Jackson, Yong B. Tan, Thomas Arzberger, Andrew J. Lees, Rebecca A. Betensky, M. Flint Beal, David K. Simon

Global Public Health

Research output: Contribution to journal › Article › peer-review

Abstract

Somatic mutations in mitochondrial DNA (mtDNA) are hypothesized to play a role in Parkinson disease (PD), but large increases in mtDNA mutations have not previously been found in PD, potentially because neurons with high mutation levels degenerate and thus are absent in late stage tissue. To address this issue, we studied early stage PD cases and cases of incidental Lewy body disease (ILBD), which is thought to represent presymptomatic PD. We show for the first time that mtDNA mutation levels in substantia nigra neurons are significantly elevated in this group of early PD and ILBD cases.

Original language	English (US)
Pages (from-to)	850-854
Number of pages	5
Journal	Annals of Neurology
Volume	71
Issue number	6
DOIs	https://doi.org/10.1002/ana.23568
State	Published - Jun 2012

ASJC Scopus subject areas

Neurology
Clinical Neurology

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10.1002/ana.23568

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title = "Somatic mitochondrial DNA mutations in early Parkinson and incidental lewy body disease",

abstract = "Somatic mutations in mitochondrial DNA (mtDNA) are hypothesized to play a role in Parkinson disease (PD), but large increases in mtDNA mutations have not previously been found in PD, potentially because neurons with high mutation levels degenerate and thus are absent in late stage tissue. To address this issue, we studied early stage PD cases and cases of incidental Lewy body disease (ILBD), which is thought to represent presymptomatic PD. We show for the first time that mtDNA mutation levels in substantia nigra neurons are significantly elevated in this group of early PD and ILBD cases.",

author = "Lin, {Michael T.} and Ippolita Cantuti-Castelvetri and Kangni Zheng and Jackson, {Katie E.} and Tan, {Yong B.} and Thomas Arzberger and Lees, {Andrew J.} and Betensky, {Rebecca A.} and Beal, {M. Flint} and Simon, {David K.}",

note = "Funding Information: Nordic Trial Alliance: a pilot project jointly funded by the Nordic Council of Ministers and NordForsk (grant number, 71450); Nordic Federation of Obstetrics and Gynecology (grant numbers, NF13041, NF15058, NF16026 and NF17043); Interreg ?resund-Kattegat-Skagerrak European Regional Development Fund (ReproUnion project).",

year = "2012",

month = jun,

doi = "10.1002/ana.23568",

language = "English (US)",

volume = "71",

pages = "850--854",

journal = "Annals of Neurology",

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publisher = "John Wiley & Sons Inc.",

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TY - JOUR

T1 - Somatic mitochondrial DNA mutations in early Parkinson and incidental lewy body disease

AU - Lin, Michael T.

AU - Cantuti-Castelvetri, Ippolita

AU - Zheng, Kangni

AU - Jackson, Katie E.

AU - Tan, Yong B.

AU - Arzberger, Thomas

AU - Lees, Andrew J.

AU - Betensky, Rebecca A.

AU - Beal, M. Flint

AU - Simon, David K.

N1 - Funding Information: Nordic Trial Alliance: a pilot project jointly funded by the Nordic Council of Ministers and NordForsk (grant number, 71450); Nordic Federation of Obstetrics and Gynecology (grant numbers, NF13041, NF15058, NF16026 and NF17043); Interreg ?resund-Kattegat-Skagerrak European Regional Development Fund (ReproUnion project).

PY - 2012/6

Y1 - 2012/6

N2 - Somatic mutations in mitochondrial DNA (mtDNA) are hypothesized to play a role in Parkinson disease (PD), but large increases in mtDNA mutations have not previously been found in PD, potentially because neurons with high mutation levels degenerate and thus are absent in late stage tissue. To address this issue, we studied early stage PD cases and cases of incidental Lewy body disease (ILBD), which is thought to represent presymptomatic PD. We show for the first time that mtDNA mutation levels in substantia nigra neurons are significantly elevated in this group of early PD and ILBD cases.

AB - Somatic mutations in mitochondrial DNA (mtDNA) are hypothesized to play a role in Parkinson disease (PD), but large increases in mtDNA mutations have not previously been found in PD, potentially because neurons with high mutation levels degenerate and thus are absent in late stage tissue. To address this issue, we studied early stage PD cases and cases of incidental Lewy body disease (ILBD), which is thought to represent presymptomatic PD. We show for the first time that mtDNA mutation levels in substantia nigra neurons are significantly elevated in this group of early PD and ILBD cases.

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IS - 6

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Somatic mitochondrial DNA mutations in early Parkinson and incidental lewy body disease

Abstract

ASJC Scopus subject areas

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