ArticleBMC medical genetics2010
Maternal inheritance and mitochondrial DNA variants in familial Parkinson's disease.
Article in BMC medical genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- Role of mitochondria DNA A10398G polymorphism on development of Parkinson's disease: A PRISMA-compliant meta-analysis.Journal of clinical laboratory analysis · 2022Pooled it
- Review
- Biocomplexity and Fractality in the Search of Biomarkers of Aging and Pathology: Mitochondrial DNA Profiling of Parkinson's Disease.International journal of molecular sciences · 2020Article
- Experimental observation of mitochondrial oxidative damage of liver cells induced by isonicotinic acid hydrazide.Experimental and therapeutic medicine · 2019Article
- Review
- Mitochondrial Biology and Neurological Diseases.Current neuropharmacology · 2016Review
- Female genetic distribution bias in mitochondrial genome observed in Parkinson's Disease patients in northern China.Scientific reports · 2015Article
- Association of the mt-ND2 5178A/C polymorphism with Parkinson's disease.Neuroscience letters · 2015Article
- Mitochondrial polymorphism A10398G and Haplogroup I are associated with Fuchs' endothelial corneal dystrophy.Investigative ophthalmology & visual science · 2014Article
- The impact of mitochondrial DNA and nuclear genes related to mitochondrial functioning on the risk of Parkinson's disease.Current genomics · 2013Article
- Mitochondrial DNA coding and control region variants as genetic risk factors for type 2 diabetes.Diabetes · 2012Article
- Does mitochondrial DNA play a role in Parkinson's disease? A review of cybrid and other supportive evidence.Antioxidants & redox signaling · 2012Review
- Inherited and somatic mitochondrial DNA mutations in Guam amyotrophic lateral sclerosis and parkinsonism-dementia.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2011Article
- Mitochondria: the next (neurode)generation.Neuron · 2011Review
- Association of PGC-1alpha polymorphisms with age of onset and risk of Parkinson's disease.BMC medical genetics · 2011Article
- POLG1-related and other "mitochondrial Parkinsonisms": an overview.Journal of molecular neuroscience : MN · 2011Review
- Mitochondrial DNA haplogroups and mutations in children with acquired central demyelination.Neurology · 2011Article
- May "mitochondrial eve" and mitochondrial haplogroups play a role in neurodegeneration and Alzheimer's disease?International journal of Alzheimer's disease · 2011Article
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundMitochondrial function is impaired in Parkinson's disease (PD) and may contribute to the pathogenesis of PD, but the causes of mitochondrial impairment in PD are unknown. Mitochondrial dysfunction is recapitulated in cell lines expressing mitochondrial DNA (mtDNA) from PD patients, implicating mtDNA variants or mutations, though the role of mtDNA variants or mutations in PD risk remains unclear. We investigated the potential contribution of mtDNA variants or mutations to the risk of PD.
methodsWe examined the possibility of a maternal inheritance bias as well as the association between mitochondrial haplogroups and maternal inheritance and disease risk in a case-control study of 168 multiplex PD families in which the proband and one parent were diagnosed with PD. 2-tailed Fisher Exact Tests and McNemar's tests were used to compare allele frequencies, and a t-test to compare ages of onset.
resultsThe frequency of affected mothers of the proband with PD (83/167, 49.4%) was not significantly different from the frequency of affected females of the proband generation (115/259, 44.4%) (Odds Ratio 1.22; 95%CI 0.83-1.81). After correcting for multiple tests, there were no significant differences in the frequencies of mitochondrial haplogroups or of the 10398G complex I gene polymorphism in PD patients compared to controls, and no significant associations with age of onset of PD. Mitochondrial haplogroup and 10398G polymorphism frequencies were similar in probands having an affected father as compared to probands having an affected mother.
conclusionsThese data fail to demonstrate a bias towards maternal inheritance in familial PD. Consistent with this, we find no association of common haplogroup-defining mtDNA variants or for the 10398G variant with the risk of PD. However, these data do not exclude a role for mtDNA variants in other populations, and it remains possible that other inherited mitochondrial DNA variants, or somatic mDNA mutations, contribute to the risk of familial PD.
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