Mitochondrial DNA haplogroups and amyotrophic lateral sclerosis
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Mitochondrial dysfunction has been implicated in the pathophysiology of sporadic amyotrophic lateral sclerosis (ALS). One group  (but not others ) reported deficient mitochondrial respiration in ALS cybrids when compared to controls sharing the same nuclear background but containing different mtDNA, suggesting that inherited genetic variants of mtDNA contribute to the pathophysiology of ALS. In keeping with this, mtDNA haplogroup I was significantly more common in 222 Italian ALS patients than in 151 control subjects . We sought to confirm these findings in a larger UK cohort.
We studied three groups. Group 1: 102 neuropathologically confirmed cases of ALS and 179 controls confirmed at autopsy. Group 2: 402 cases of definite or probable ALS cases according to El Escorial criteria and 344 sequential live births from the same geographic region. Group 3: 493 UK population controls (UK MRC 1958 cohort).
There was no difference in the overall mtDNA haplogroup distribution between ...
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- Mitochondrial DNA haplogroups and amyotrophic lateral sclerosis
Volume 8, Issue 1 , pp 65-67
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- Author Affiliations
- 1. Mitochondrial Research Group, The University of Newcastle upon Tyne, Newcastle upon Tyne, UK
- 2. Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, UK
- 4. M4104, The Medical School, Framlington Place, NE2 4HH, Newcastle upon Tyne, UK
- 3. Academic Neurology Unit, University of Sheffield, Sheffield, UK