Investigations on the point mutations at nt 5460 of the mtDNA in different neurodegenerative and neuromuscular diseases

European Neurology

Volumn 36, Issue 3, 1996, Pages 149-153

  Janetzky, Bernd ^a   Schmid, Christoph ^a   Felix, Felix ^a   Frölich, Lutz ^a   Gsell, Wieland ^a   Kalaria, Rajesh N ^b   Riederer, Peter ^a   Reichmann, Heinz ^a  

^a UNIVERSITY OF WÜRZBURG   (Germany)

^b CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Alzheimer rsquo; s disease; Mitochondria; Neurodegenerative disorders; Point mutation

Indexed keywords

MITOCHONDRIAL DNA;

ADOLESCENT; ADULT; AGED; ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOPSY; BRAIN TISSUE; CHILD; CONTROLLED STUDY; DEGENERATIVE DISEASE; DNA DETERMINATION; DNA SEQUENCE; DOWN SYNDROME; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MITOCHONDRIAL MYOPATHY; NEUROMUSCULAR DISEASE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ALLELES; BASE SEQUENCE; BRAIN; CASE-CONTROL STUDIES; DNA, MITOCHONDRIAL; HUMANS; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MOLECULAR SEQUENCE DATA; MUSCLES; NERVE DEGENERATION; NEUROMUSCULAR DISEASES; POINT MUTATION; POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY;

EID: 0029965659     PISSN: 00143022     EISSN: 14219913     Source Type: Journal    
DOI: 10.1159/000117233     Document Type: Article

References (30)

1. Wallace DC: Diseases of the mitochondrial DNA. Annu Rev Biochem 1992;61:1175-1212.
2. Janctzkv B, Hauck S, Youdim MB, Riederer P, Jellinger K, Pantucek F, Zöchling R, Boissl KW, Reichmann H: Unaltered aconitasc activity. but decreased complex 1 activity in substantia nigra pars compacta of patients with Parkinson’s disease. Neurosci Lett 1994; 169: 126-128.
3. Mizuno Y, Ohta S, Tanaka M, Takamiya S, Suzuki K, Sato T, Ova H, Ozawa T, Kagawa Y: Deficiencies in complex 1 subunits of the respiratory chain in Parkinson's disease. Biochem Biophys ResCommun 1989:163:1450-1455.
4. Mizuno Y, Suzuki K, Ohta S: Postmortem changes in mitochondrial respiratory enzymes in brain and a preliminary observation in Parkinson's disease. J Neurol Sei 1990;96:49-57.
5. Reichmann H, Riederer P, Seufert S: Disturbances of the respirator chain in brain from patients with Parkinson’s disease (abstract). Mov Disord 1990;5:28.
6. Schapira AH, Cooper JM, Dexter D, Jenner P, Clark JB, Marsden CD: Mitochondrial complex I deficiency in Parkinson’s disease. Lancet 1989;i: 1269.
7. Schapira AH, Cooper JM, Dexter D, Clark JB, Jenner P, Marsden CD: Mitochondrial complex I deficiency in Parkinson’s disease. J Neurochem 1990:54:823-827.
8. Ikebe S, Tanaka M, Ohno K, Sato W, Hattori K, Kondo T, Mizuno Y, Ozawa T: Increase of deleted mitochondrial DNA in the striatum in Parkinson’s disease and senescence. Biochem Biophys Res Commun 1990; 170:1044-1048.
9. Ozawa T, Tanaka M, Ikebe S, Ohno K, Kondo T, Mizuno Y: Quantitative determination of deleted mitochondrial DNA relative to normal DNA in parkinsonian striatum by a kinetic PCR analysis. Biochem Biophvs Res Commun 1990:172:483-489.
10. Ozawa T, Tanaka M, Ino H, Ohno K, Sano T, Wada Y, Yoneda M, Tanno Y, Miyatake T, Tanaka T, et al: Distinct clustering of point mutations in mitochondrial DNA among patients with mitochondrial cncephalomyopa-thics and with Parkinson’s disease. Biochem Biophys ResCommun 1991;176:938-946.
11. Wallace DC, Shoffner JM, Brown MD, Torroni A, Lott MT, Cabell M: Mitochondrial DNA mutations associated with Alzheimer's and Parkinson’s disease. Am J Hum Genet 1992: 51: A30.
12. Kish SJ, Bergeron C, Rajput A, Dozic S, Mastrogiacomo F, Chang LJ, Wilson JM, DiStefano LM, Nobrega JN: Brain cytochrome oxidase in Alzheimer’s disease. J Neurochem 1992:59: 776-779.
13. Reichntann H, Flörke S, Hebenstreil G, Schru-bar H, Riederer P: Analyses of energy metabolism and mitochondrial genome in post-mortem brain from patients with Alzheimer’s disease. J Neurol 1993;240:377-380.
14. Parker WD, Filley CM, Parks JK: Cytochrome oxidase deficiency in Alzheimer's disease. Neurology 1990:40:1302-1303.
15. Parker WD Jr, Parks J, Filley CM, Klein-schmidt DeMasters BK: Electron transport chain defects in Alzheimer’s disease brain. Neurology 1994,44:1090-1096.
16. Parker WD Jr, Mahr NJ, Filley CM, Parks JK, Hughes D, Young DA, Cullum CM: Reduced platelet cytochrome c oxidase activity in Alzheimer's disease. Neurology 1994:44:1086-1090.
17. Lin FH, Lin R, Wisniewski HM, Hwang YW, Grundke Iqbal I, Healy Louie G, Iqbal K: Detection of point mutations in codon 331 of mitochondrial NADH dehydrogenase subunit 2 in Alzheimer’s brains. Biochem Biophys Res Commun 1992;182:238-246.
18. Petruzzella V, Chen X, Schon EA: Is a point mutation in the mitochondrial ND2 gene associated with Alzheimer’s disease. Biochem Biophys Res Commun 1992;186:491-497.
19. Khatchaturian ZS: Diagnosis of Alzheimer's disease. Arch Neurol 1985;42:1097-1105.
20. Braak H, Braak E: Morphology of the cerebral cortex in relation to Alzheimer’s dementia; in Maurer K, Riederer P. Beckmann H (eds): Alzheimer’s Disease: Epidemiology. Neuropathology, Neurochcmistry and Clinics. Key Topics in Brain Research. Wien, Springer, 1990, pp 85-91.
21. McKhann G, Drachmann D, Folstein M, Katz-man R, Price D, Stadlan EM: Clinical diagnosis of Alzheimer's disease: Report of the NINCDS-ADRDA Work Group under the auspices of the Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology 1984;34:939-944.
22. Rosen W, Terry RD, Fuld PA, Katzman R, Peck A: Pathologic verification of the ischemic score in differentiation of dementias. Ann Neurol 1980;7:89-99.
23. Ihi R, Frölich L, Dierks T, Martin EM, Maurer K: Differential validity of psychometric tests in dementia of the Alzheimer type. Psychiatry Res 1992:44:93-106.
24. Lesticnne P, Nelson J, Riederer P, Jellinger K, Reichmann H: Normal mitochondrial genome in brain from patients with Parkinson's disease and complex I defect (published erratum appears in J Neurochem 1991;56:1457). J Neuro-chem 1990;55:1810-1812.
25. Scibd P, Degoul F, Romero N, Marsac C, Kadenbach B: Identification of point mutations by mispairing PCR as exemplified in MERRF disease. Biochem Biophys ResCommun 1990; 173:561-565.
26. Sanger F, Nicklen S, Coulson AR: DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sei USA 1977:74:5463-5467.
27. Parker WD: Cytochrome oxidase deficiency in Alzheimer's disease. Ann NY Acad Sei 1991; 640:59-64.
28. Levi AC, DeMattei M, Ravazzani R, Corvetti G, Golden GT, Fariello RG: Effects of 1-methyl - 4 - phenyl -1,2,3,6 - tetrahydropvridine (MPTP) on ultrastructure of nigral neuromelanin in Macaca fascicularis. Neurosci Lett 1989:96:271-276.
29. Lin FH, Lin R: A comparison of single nucleotide primer extension with mispairing PCR-RFLP in detecting a point mutation. Biochem Biophys Res Commun 1992; 189:1202-1206.
30. Kösel S, Egensperger R, Mehracin P, Graeber MB: No association of mutations of nucleotide 5460 of mitochondrial NADH dehydrogenase with Alzheimer's disease. Biochem Biophys ResCommun 1994;203:745-749.