Mitochondrial dysfunction and brain development disorders

Brain and Nerve

Volumn 53, Issue 5, 2001, Pages 421-426

  Goto, Y I ^a  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

Apoptosis; Energy metabolism; Leigh encephalopathy; Mitochondrial DNA

Indexed keywords

HETERODUPLEX; MITOCHONDRIAL DNA; PYRUVATE DEHYDROGENASE; SUCCINATE DEHYDROGENASE;

APOPTOSIS; ARTICLE; BRAIN DEVELOPMENT; DEVELOPMENTAL DISORDER; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENERGY METABOLISM; GENE MUTATION; HUMAN; LEIGH DISEASE; LEUKODYSTROPHY; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY;

BRAIN; DNA, MITOCHONDRIAL; HUMANS; LEIGH DISEASE; MAGNETIC RESONANCE IMAGING; METALLOENDOPEPTIDASES; MITOCHONDRIA; POINT MUTATION; PYRUVATE CARBOXYLASE DEFICIENCY DISEASE; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE;

EID: 0034993204     PISSN: 00068969     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (27)

1. Deficiency in complex II of the respiratory chain, presenting as a leukodystrophy in two sisters with Leigh syndrome
2. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency
3. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
4. Apaf 1 (CED-4 homolog) regulates programmed cell death in mammalian development
5. Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the E 1 α gene
6. A second missense mutation in the mitochondrial ATPase 6 gene in Leigh syndrome
7. Fulminant Leigh syndrome and sudden unexpected death in a family with T 9176 C mutation of the mitochondrial ATPase 6 gene
8. Defective gene in lactic acidosis; abnormal pyruvate dehydrogenase E 1 α-subunit caused by a frame shift
9. Complex I (reduced nicotinamide-adenine dinucleotide-coenzyme Q reductase) deficiency in two patients with probable Leigh syndrome
10. BCL-2 family members and the mitochondrial in apoptosis
11. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy
12. Subacute necrotizing encephalomyopathy
13. The first nuclear-encoded complex I mutation in a patient with Leigh syndrome
14. Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's disease
15. Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome
16. Mitochondria DNA mutations in Leigh syndrome and their phylogenetic implications
17. A single cell completion class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome
18. Pyruvate carboxylase deficiency-an alleged biochemical cause of Leigh's disease
19. No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency
20. De novo mtDNA nt 8993 (T→G) mutation resulting in Leigh syndrome
21. Heteroplasmic mtDNA mutation (T→G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high
22. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
23. Leigh syndrome associated with a mutation in the NDUFS 7(PSST) nuclear subunit of complex I
24. Cytoplasmic transfer of the mtDNA nt 8993 T→G(ATP 6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio
25. Subacute necrotizing encephalopathy(Leigh syndrome) associated with disturbed oxidation of pyruvate, malate and 2-oxoglutarate in muscle and liver
26. Apaf 1 is required for mitochondrial pathways of apoptotsis and brain development
27. SURF 1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome