Reduction in mitochondrial DNA copy number in peripheral leukocytes after onset of Huntington's disease

Maria Hvidberg Petersen; Esben Budtz-Jørgensen; Sven Asger Sørensen; Jørgen Erik Nielsen; Lena Elisabeth Hjermind; Tua Vinther-Jensen; Signe Marie Borch Nielsen; Anne Nørremølle

doi:10.1016/j.mito.2014.05.001

Reduction in mitochondrial DNA copy number in peripheral leukocytes after onset of Huntington's disease

Maria Hvidberg Petersen, Esben Budtz-Jørgensen, Sven Asger Sørensen, Jørgen Erik Nielsen, Lena Elisabeth Hjermind, Tua Vinther-Jensen, Signe Marie Borch Nielsen, Anne Nørremølle

Medical Genetics Program

32 Citations (Scopus)

Abstract

Huntington's disease (HD) is an inherited neurodegenerative disorder characterised by movement disorder, cognitive symptoms and psychiatric symptoms with predominantly adult-onset. The mutant huntingtin protein leads to mitochondrial dysfunction in blood leukocytes. This discovery led to the investigation of the mitochondrial DNA (mtDNA) copy number relative to nuclear DNA (nDNA) in leukocytes from carriers of the HD mutation compared to healthy individuals. We found significantly reduced mtDNA/nDNA in HD mutation carriers compared to controls. A longitudinal study of archive DNA sample pairs from HD patients revealed a biphasic pattern of increasing mtDNA/nDNA before onset of motor symptoms and decreasing mtDNA/nDNA after.

Original language	English
Journal	Mitochondrion
Volume	17
Pages (from-to)	14-21
Number of pages	8
ISSN	1567-7249
DOIs	https://doi.org/10.1016/j.mito.2014.05.001
Publication status	Published - Jul 2014

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title = "Reduction in mitochondrial DNA copy number in peripheral leukocytes after onset of Huntington's disease",

abstract = "Huntington's disease (HD) is an inherited neurodegenerative disorder characterised by movement disorder, cognitive symptoms and psychiatric symptoms with predominantly adult-onset. The mutant huntingtin protein leads to mitochondrial dysfunction in blood leukocytes. This discovery led to the investigation of the mitochondrial DNA (mtDNA) copy number relative to nuclear DNA (nDNA) in leukocytes from carriers of the HD mutation compared to healthy individuals. We found significantly reduced mtDNA/nDNA in HD mutation carriers compared to controls. A longitudinal study of archive DNA sample pairs from HD patients revealed a biphasic pattern of increasing mtDNA/nDNA before onset of motor symptoms and decreasing mtDNA/nDNA after.",

author = "Petersen, {Maria Hvidberg} and Esben Budtz-J{\o}rgensen and S{\o}rensen, {Sven Asger} and Nielsen, {J{\o}rgen Erik} and Hjermind, {Lena Elisabeth} and Tua Vinther-Jensen and Nielsen, {Signe Marie Borch} and Anne N{\o}rrem{\o}lle",

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doi = "10.1016/j.mito.2014.05.001",

language = "English",

volume = "17",

pages = "14--21",

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T1 - Reduction in mitochondrial DNA copy number in peripheral leukocytes after onset of Huntington's disease

AU - Petersen, Maria Hvidberg

AU - Budtz-Jørgensen, Esben

AU - Sørensen, Sven Asger

AU - Nielsen, Jørgen Erik

AU - Hjermind, Lena Elisabeth

AU - Vinther-Jensen, Tua

AU - Nielsen, Signe Marie Borch

AU - Nørremølle, Anne

PY - 2014/7

Y1 - 2014/7

N2 - Huntington's disease (HD) is an inherited neurodegenerative disorder characterised by movement disorder, cognitive symptoms and psychiatric symptoms with predominantly adult-onset. The mutant huntingtin protein leads to mitochondrial dysfunction in blood leukocytes. This discovery led to the investigation of the mitochondrial DNA (mtDNA) copy number relative to nuclear DNA (nDNA) in leukocytes from carriers of the HD mutation compared to healthy individuals. We found significantly reduced mtDNA/nDNA in HD mutation carriers compared to controls. A longitudinal study of archive DNA sample pairs from HD patients revealed a biphasic pattern of increasing mtDNA/nDNA before onset of motor symptoms and decreasing mtDNA/nDNA after.

AB - Huntington's disease (HD) is an inherited neurodegenerative disorder characterised by movement disorder, cognitive symptoms and psychiatric symptoms with predominantly adult-onset. The mutant huntingtin protein leads to mitochondrial dysfunction in blood leukocytes. This discovery led to the investigation of the mitochondrial DNA (mtDNA) copy number relative to nuclear DNA (nDNA) in leukocytes from carriers of the HD mutation compared to healthy individuals. We found significantly reduced mtDNA/nDNA in HD mutation carriers compared to controls. A longitudinal study of archive DNA sample pairs from HD patients revealed a biphasic pattern of increasing mtDNA/nDNA before onset of motor symptoms and decreasing mtDNA/nDNA after.

U2 - 10.1016/j.mito.2014.05.001

DO - 10.1016/j.mito.2014.05.001

M3 - Journal article

C2 - 24836434

SN - 1567-7249

VL - 17

SP - 14

EP - 21

JO - Mitochondrion

JF - Mitochondrion

ER -

Reduction in mitochondrial DNA copy number in peripheral leukocytes after onset of Huntington's disease

Abstract

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