Complex I deficiency due to loss of Ndufs4 in the brain results in progressive encephalopathy resembling Leigh syndrome

Proceedings of the National Academy of Sciences of the United States of America

Volumn 107, Issue 24, 2010, Pages 10996-11001

  Quintana, Albert ^a   Kruse, Shane E ^a   Kapur, Raj P ^b   Sanz, Elisenda ^c   Palmiter, Richard D ^a  

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b SEATTLE CHILDREN S HOSPITAL   (United States)

^c UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

Cerebellum; Gliosis; Mitochondria; Neurodegeneration; Vestibular nucleus

Indexed keywords

CASPASE 8; CASPASE 9; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; APOPTOSIS; ARTICLE; ATAXIA; BEHAVIOR CHANGE; BRAIN DISEASE; BREATHING DISORDER; CELL ACTIVATION; CELL ULTRASTRUCTURE; CEREBELLUM; COMPLEX I DEFICIENCY; CONTROLLED STUDY; DISEASE COURSE; ENZYME ACTIVATION; GENE INACTIVATION; GLIA; GLIOSIS; GROWTH RETARDATION; KNOCKOUT MOUSE; LEIGH DISEASE; MITOCHONDRION; MORTALITY; MOTOR DYSFUNCTION; MOUSE; NECROSIS; NERVE CELL; NERVE CELL DEGENERATION; NERVE CELL NECROSIS; NONHUMAN; OLFACTORY BULB; PHENOTYPE; PRIORITY JOURNAL; VESTIBULAR NUCLEUS;

ANIMALS; BRAIN; CASPASE 8; CELL DEATH; DISEASE MODELS, ANIMAL; ELECTRON TRANSPORT COMPLEX I; HUMANS; LEIGH DISEASE; MICE; MICE, KNOCKOUT; MITOCHONDRIA; NERVE DEGENERATION; NEUROGLIA; NEURONS; OXIDATIVE STRESS; PHENOTYPE;

MUS;

EID: 77954638436     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1006214107     Document Type: Article

References (33)

1. Chol M, et al. (2003) The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency. J Med Genet 40:188-191.
2. Leigh D (1951) Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry 14:216-221.
3. Rahman S, et al. (1996) Leigh syndrome: Clinical features and biochemical and DNA abnormalities. Ann Neurol 39:343-351.
4. Munaro M, et al. (1997) A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome. Hum Mol Genet 6:221-228.
5. Piao YS, Tang GC, Yang H, Lu DH (2006) Clinico-neuropathological study of a Chinese case of familial adult Leigh syndrome. Neuropathology 26:218-221.
6. Arii J, Tanabe Y (2000) Leigh syndrome: Serial MR imaging and clinical follow-up. AJNR Am J Neuroradiol 21:1502-1509.
7. Debray FG, Lambert M, Lortie A, Vanasse M, Mitchell GA (2007) Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation. Am J Med Genet A 143A:2046-2051.
8. Desguerre I, et al. (2003) Infantile spasms with basal ganglia MRI hypersignal may reveal mitochondrial disorder due to T8993G MT DNA mutation. Neuropediatrics 34: 265-269. (Pubitemid 37411734)
9. Nagashima T, et al. (1999) Adult Leigh syndrome with mitochondrial DNA mutation at 8993. Acta Neuropathol 97:416-422. (Pubitemid 29134524)
10. Wick R, Scott G, Byard RW (2007) Mechanisms of unexpected death and autopsy findings in Leigh syndrome (subacute necrotising encephalomyelopathy). J Forensic Leg Med 14:42-45.
11. Barkovich AJ, Good WV, Koch TK, Berg BO (1993) Mitochondrial disorders: Analysis of their clinical and imaging characteristics. AJNR Am J Neuroradiol 14:1119-1137.
12. Lee HF, Tsai CR, Chi CS, Lee HJ, Chen CC (2009) Leigh syndrome: Clinical and neuroimaging follow-up. Pediatr Neurol 40:88-93.
13. Lebon S, et al. (2003) Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency. J Med Genet 40:896-899.
14. Loeffen J, et al. (1998) The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. Am J Hum Genet 63:1598-1608.
15. Cavanagh JB, Harding BN (1994) Pathogenic factors underlying the lesions in Leigh's disease. Tissue responses to cellular energy deprivation and their clinico-pathological consequences. Brain 117:1357-1376.
16. Cooper MP, et al. (2006) Defects in energy homeostasis in Leigh syndrome French Canadian variant through PGC-1alpha/LRP130 complex. Genes Dev 20:2996-3009.
17. Ostergaard E, et al. (2007) Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. Brain 130:853-861.
18. Kruse SE, et al. (2008) Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy. Cell Metab 7:312-320.
19. Tronche F, et al. (1999) Disruption of the glucocorticoid receptor gene in the nervous system results in reduced anxiety. Nat Genet 23:99-103.
20. Merante F, et al. (1993) A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec. Am J Hum Genet 53: 481-487.
21. Papa S, et al. (2001) Mutation in the NDUFS4 gene of complex I abolishes cAMP-dependent activation of the complex in a child with fatal neurological syndrome. FEBS Lett 489:259-262.
22. Welsh JP, et al. (2002) Why do Purkinje cells die so easily after global brain ischemia? Aldolase C, EAAT4, and the cerebellar contribution to posthypoxic myoclonus. Adv Neurol 89:331-359.
23. Glickstein M (1994) Cerebellar agenesis. Brain 117:1209-1212.
24. Timmann D, Dimitrova A, Hein-Kropp C, Wilhelm H, Dörfler A (2003) Cerebellar agenesis: Clinical, neuropsychological and MR findings. Neurocase 9:402-413.
25. Titomanlio L, Romano A, Del Giudice E (2005) Cerebellar agenesis. Neurology 64:E21.
26. Wajant H (2002) The Fas signaling pathway: More than a paradigm. Science 296: 1635-1636.
27. Allan LA, Clarke PR (2009) Apoptosis and autophagy: Regulation of caspase-9 by phosphorylation. FEBS J 276:6063-6073.
28. Block ML, Zecca L, Hong JS (2007) Microglia-mediated neurotoxicity: Uncovering the molecular mechanisms. Nat Rev Neurosci 8:57-69.
29. Ferrari D, Stepczynska A, Los M, Wesselborg S, Schulze-Osthoff K (1998) Differential regulation and ATP requirement for caspase-8 and caspase-3 activation during CD95- and anticancer drug-induced apoptosis. J Exp Med 188:979-984.
30. Hartmann A, et al. (2001) Caspase-8 is an effector in apoptotic death of dopaminergic neurons in Parkinson's disease, but pathway inhibition results in neuronal necrosis. J Neurosci 21:2247-2255.
31. Leist M, Single B, Castoldi AF, Kühnle S, Nicotera P (1997) Intracellular adenosine triphosphate (ATP) concentration: A switch in the decision between apoptosis and necrosis. J Exp Med 185:1481-1486.
32. Eguchi Y, Shimizu S, Tsujimoto Y (1997) Intracellular ATP levels determine cell death fate by apoptosis or necrosis. Cancer Res 57:1835-1840.
33. Sanz E, et al. (2009) Cell-type-specific isolation of ribosome-associated mRNA from complex tissues. Proc Natl Acad Sci USA 106:13939-13944.