Genotype in the 24-kDa Subunit Gene (NDUFV2) of Mitochondrial Complex I and Susceptibility to Parkinson Disease

Genomics ◽  
1998 ◽  
Vol 49 (1) ◽  
pp. 52-58 ◽  
Author(s):  
Nobutaka Hattori ◽  
Hiroyo Yoshino ◽  
Masashi Tanaka ◽  
Hiroshi Suzuki ◽  
Yoshikuni Mizuno
Keyword(s):  
Parkinson Disease ◽  
Complex I ◽  
Mitochondrial Complex I ◽  
Subunit Gene ◽  
Mitochondrial Complex

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

2004 ◽  
Vol 56 (7) ◽  
pp. 483-489 ◽  
Author(s):  
Shinsuke Washizuka ◽  
Kazuya Iwamoto ◽  
An-a Kazuno ◽  
Chihiro Kakiuchi ◽  
Kanako Mori ◽  
...  
Keyword(s):  
Mental Health ◽  
Bipolar Disorder ◽  
Complex I ◽  
Mitochondrial Complex I ◽  
Subunit Gene ◽  
Mitochondrial Complex

scholarly journals Quantitative Mapping of Reversible Mitochondrial Complex I Cysteine Oxidation in a Parkinson Disease Mouse Model

2011 ◽  
Vol 286 (9) ◽  
pp. 7601-7608 ◽  
Author(s):  
Steven R. Danielson ◽  
Jason M. Held ◽  
May Oo ◽  
Rebeccah Riley ◽  
Bradford W. Gibson ◽  
...  
Keyword(s):  
Mouse Model ◽  
Parkinson Disease ◽  
Complex I ◽  
Mitochondrial Complex I ◽  
Mitochondrial Complex ◽  
Cysteine Oxidation ◽  
Quantitative Mapping

Assignment of the PSST Subunit Gene of Human Mitochondrial Complex I to Chromosome 19p13

Genomics ◽  
1996 ◽  
Vol 37 (3) ◽  
pp. 375-380 ◽  
Author(s):  
Serena J. Hyslop ◽  
Alessandra M.V. Duncan ◽  
Sari Pitkänen ◽  
Brian H. Robinson
Keyword(s):  
Complex I ◽  
Mitochondrial Complex I ◽  
Subunit Gene ◽  
Mitochondrial Complex

Novel mutations of mitochondrial complex I in pathologically proven Parkinson disease

Neurogenetics ◽  
1998 ◽  
Vol 1 (3) ◽  
pp. 197-204 ◽  
Author(s):  
Siegfried Kösel ◽  
E. M. Grasbon-Frodl ◽  
Ulrike Mautsch ◽  
Rupert Egensperger ◽  
U. von Eitzen ◽  
...  
Keyword(s):  
Parkinson Disease ◽  
Complex I ◽  
Mitochondrial Complex I ◽  
Mitochondrial Complex ◽  
Novel Mutations

scholarly journals Roles for Mitochondrial Complex I subunits in regulating synaptic transmission and growth

2022 ◽  
Author(s):  
Bhagaban Mallik ◽  
C. Andrew Frank
Keyword(s):  
Complex I ◽  
Genetic Factors ◽  
Protein Complexes ◽  
Leigh Syndrome ◽  
Genetic Screen ◽  
Mitochondrial Complex I ◽  
Subunit Gene ◽  
Mitochondrial Complex ◽  
Parkinsons Disease ◽  
Cellular Bioenergetics

To identify conserved components of synapse function that are also associated with human diseases, we conducted a genetic screen. We used the Drosophila melanogaster neuromuscular junction (NMJ) as a model. We employed RNA interference (RNAi) on selected targets and assayed synapse function by electrophysiology. We focused our screen on genetic factors known to be conserved from human neurological or muscle functions (321 total RNAi lines screened). Knockdown of a particular Mitochondrial Complex I (MCI) subunit gene (ND-20L) lowered levels of NMJ neurotransmission. Due to the severity of the phenotype, we studied MCI function further. Knockdown of core MCI subunits concurrently in neurons and muscle led to impaired neurotransmission. Further, pharmacology targeting MCI phenocopied the impaired neurotransmission phenotype. Finally, MCI subunit knockdowns led to profound cytological defects, including reduced NMJ growth and altered NMJ morphology. Mitochondria are essential for cellular bioenergetics and produce ATP through oxidative phosphorylation. Five multi-protein complexes achieve this task, and MCI is the largest. Impaired Mitochondrial Complex I subunits in humans are associated with disorders such as Parkinsons disease, Leigh syndrome, and cardiomyopathy. Together, our data present an analysis of Complex I in the context of synapse function and plasticity. We speculate that in the context of human MCI dysfunction, similar neuronal and synaptic defects could contribute to pathogenesis.

Further support for association of the mitochondrial complex I subunit gene NDUFV2 with bipolar disorder

2008 ◽  
Vol 10 (1) ◽  
pp. 105-110 ◽  
Author(s):  
Chun Xu ◽  
Peter P Li ◽  
James L Kennedy ◽  
Marty Green ◽  
Bronwen Hughes ◽  
...  
Keyword(s):  
Bipolar Disorder ◽  
Complex I ◽  
Mitochondrial Complex I ◽  
Subunit Gene ◽  
Mitochondrial Complex
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