General Information:

Id: 6,872
Diseases: MELAS - [OMIM]
MERRF - [OMIM]
Homo sapiens
article
Reference: Naini AB et al.(2005) Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF Arch. Neurol. 62: 473-476 [PMID: 15767514]

Interaction Information:

Comment The mitochondrial DNA gene encoding subunit 5 of complex I (ND5) has turned out to be a hot spot for mutations associated with MELAS (mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes), MERRF (strokelike and myoclonus epilepsy with ragged-red fibers), and various overlap syndromes. Biochemical analysis showed isolated complex I deficiency and molecular analysis revealed a novel heteroplasmic mutation (G13042A) in the ND5 gene.
Formal Description
Interaction-ID: 67101

gene/protein mutant

MT-ND5-mut

increases_activity of

phenotype

encephalomyopathy, mitochondrial

Comment The mitochondrial DNA gene encoding subunit 5 of complex I (ND5) has turned out to be a hot spot for mutations associated with MELAS (mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes), MERRF (strokelike and myoclonus epilepsy with ragged-red fibers), and various overlap syndromes. Biochemical analysis showed isolated complex I deficiency and molecular analysis revealed a novel heteroplasmic mutation (G13042A) in the ND5 gene.
Formal Description
Interaction-ID: 67103

gene/protein mutant

MT-ND5-mut

increases_activity of

phenotype

lactic acidosis

Comment The mitochondrial DNA gene encoding subunit 5 of complex I (ND5) has turned out to be a hot spot for mutations associated with MELAS (mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes), MERRF (strokelike and myoclonus epilepsy with ragged-red fibers), and various overlap syndromes. Biochemical analysis showed isolated complex I deficiency and molecular analysis revealed a novel heteroplasmic mutation (G13042A) in the ND5 gene.
Formal Description
Interaction-ID: 67104

gene/protein mutant

MT-ND5-mut

increases_activity of

phenotype

stroke-like episodes

Comment The mitochondrial DNA gene encoding subunit 5 of complex I (ND5) has turned out to be a hot spot for mutations associated with MELAS (mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes), MERRF (strokelike and myoclonus epilepsy with ragged-red fibers), and various overlap syndromes. Biochemical analysis showed isolated complex I deficiency and molecular analysis revealed a novel heteroplasmic mutation (G13042A) in the ND5 gene.
Formal Description
Interaction-ID: 67105

gene/protein mutant

MT-ND5-mut

increases_activity of

disease

MELAS

Comment The mitochondrial DNA gene encoding subunit 5 of complex I (ND5) has turned out to be a hot spot for mutations associated with MELAS (mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes), MERRF (strokelike and myoclonus epilepsy with ragged-red fibers), and various overlap syndromes. Biochemical analysis showed isolated complex I deficiency and molecular analysis revealed a novel heteroplasmic mutation (G13042A) in the ND5 gene.
Formal Description
Interaction-ID: 67106

gene/protein mutant

MT-ND5-mut

increases_activity of

disease

MERRF

Comment The mitochondrial DNA gene encoding subunit 5 of complex I (ND5) has turned out to be a hot spot for mutations associated with MELAS (mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes), MERRF (strokelike and myoclonus epilepsy with ragged-red fibers), and various overlap syndromes. Biochemical analysis showed isolated complex I deficiency and molecular analysis revealed a novel heteroplasmic mutation (G13042A) in the ND5 gene.
Formal Description
Interaction-ID: 67109

gene/protein mutant

MT-ND5-mut

increases_activity of

phenotype

myoclonus

Comment The mitochondrial DNA gene encoding subunit 5 of complex I (ND5) has turned out to be a hot spot for mutations associated with MELAS (mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes), MERRF (strokelike and myoclonus epilepsy with ragged-red fibers), and various overlap syndromes. Biochemical analysis showed isolated complex I deficiency and molecular analysis revealed a novel heteroplasmic mutation (G13042A) in the ND5 gene.
Formal Description
Interaction-ID: 67111

gene/protein mutant

MT-ND5-mut

increases_activity of

phenotype

seizures

Comment The mitochondrial DNA gene encoding subunit 5 of complex I (ND5) has turned out to be a hot spot for mutations associated with MELAS (mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes), MERRF (strokelike and myoclonus epilepsy with ragged-red fibers), and various overlap syndromes. Biochemical analysis showed isolated complex I deficiency and molecular analysis revealed a novel heteroplasmic mutation (G13042A, resulting in Ala236Th) in the ND5 gene.
Formal Description
Interaction-ID: 67114

gene/protein mutant

MT-ND5-p.A236T

increases_activity of

disease

MELAS

Comment The mitochondrial DNA gene encoding subunit 5 of complex I (ND5) has turned out to be a hot spot for mutations associated with MELAS (mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes), MERRF (strokelike and myoclonus epilepsy with ragged-red fibers), and various overlap syndromes. Biochemical analysis showed isolated complex I deficiency and molecular analysis revealed a novel heteroplasmic mutation (G13042A, resulting in Ala236Th) in the ND5 gene.
Formal Description
Interaction-ID: 67117

gene/protein mutant

MT-ND5-p.A236T

increases_activity of

disease

MERRF