Genetic variation of the mitochondrial complex I subunit NDUFV2 and Parkinson’s disease

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Function of mitochondrial complex-I and -IV in normal human and Parkinson's disease cybrids

Mitochondrial dysfunction has been implicated in the dopaminergic neurodegeneration, which characterizes Parkinson’s disease (PD). The activities of mitochondrial complexes I and IV were found to be reduced in the brains of PD patients (n = 4) as compared to age-matched controls (n = 4). This is tested in SH-SY5Y cell lines, transformed Rho0 cells, and in normal and PD cybrid cell lines. Cybrid...

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Function of mitochondrial complex-I and -IV in normal human and Parkinson's disease cybrids

Mitochondrial dysfunction has been implicated in the dopaminergic neurodegeneration, which characterizes Parkinson’s disease (PD). The activities of mitochondrial complexes I and IV were found to be reduced in the brains of PD patients (n = 4) as compared to age-matched controls (n = 4). This is tested in SH-SY5Y cell lines, transformed Rho0 cells, and in normal and PD cybrid cell lines. Cybrid...

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Association of mitochondrial complex I subunit gene NDUFV2 at 18p11 with bipolar disorder in Japanese and the National Institute of Mental Health pedigrees.

BACKGROUND Linkage with 18p11 is one of the replicated findings in molecular genetics of bipolar disorder. Because mitochondrial dysfunction has been suggested in bipolar disorder, NDUFV2 at 18p11, encoding a subunit of the complex I, reduced nicotinamide adenine dinucleotide (NADH)ubiquinone oxidoreductase, is a candidate gene for this disorder. We previously reported that a polymorphism in th...

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Mitochondria and Alzheimer’s Disease: the Role of Mitochondrial Genetic Variation

Purpose of Review Alzheimer's disease (AD) is the most common form of dementia, affects an increasing number of people worldwide, has a rapidly increasing incidence, and is fatal. In the past several years, significant progress has been made towards solving the genetic architecture of AD, but our understanding remains incomplete and has not led to treatments that either cure or slow disease. Th...

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Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.

Respiratory chain complex I deficiency represents a genetically heterogeneous group of diseases resulting from mutations in mitochondrial or nuclear genes. Mutations have been reported in 13 of the 14 subunits encoding the core of complex I (seven mitochondrial and six nuclear genes) and these result in Leigh or Leigh-like syndromes or cardiomyopathy. In this study, a combination of denaturing ...

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ژورنال

عنوان ژورنال: Parkinsonism & Related Disorders

سال: 2010

ISSN: 1353-8020

DOI: 10.1016/j.parkreldis.2010.09.007