The tRNAGln 4336 mitochondrial DNA variant is not a high penetrance mutation which predisposes to dementia before the age of 75 years

Journal of Medical Genetics

Volumn 33, Issue 12, 1996, Pages 1002-1006

  Tysoe, Carolyn ^a   Robinson, Damian ^b   Brayne, Carol ^b   Dening, Tom ^c   Paykel, Eugene S ^c   Huppert, Felicia A ^c   Rubinsztein, David C ^a  

^a CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

Alzheimer's disease; Dementia; Mitochondrial mutation

Indexed keywords

GLUTAMINE TRANSFER RNA; MITOCHONDRIAL DNA;

AGED; ALZHEIMER DISEASE; ARTICLE; AUTOPSY; COGNITION; CONTROLLED STUDY; DEMENTIA; GENE MUTATION; GENETIC PREDISPOSITION; HUMAN; HUMAN TISSUE; LONGITUDINAL STUDY; MAJOR CLINICAL STUDY; PENETRANCE; PRIORITY JOURNAL; RISK FACTOR; CASE CONTROL STUDY; FEMALE; GENETIC VARIABILITY; GENETICS; MALE; ONSET AGE; POINT MUTATION; PSYCHOLOGICAL ASPECT;

AGE OF ONSET; AGED; AGED, 80 AND OVER; CASE-CONTROL STUDIES; COGNITION; DEMENTIA; DNA, MITOCHONDRIAL; FEMALE; HUMANS; LONGITUDINAL STUDIES; MALE; POINT MUTATION; RNA, TRANSFER, GLN; VARIATION (GENETICS);

EID: 0030299996     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.12.1002     Document Type: Article

References (15)

1. St George-Hyslop PH, Haines JL, Farrar LA, et al. Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder. Nature 1990;347:194-7.
2. Goate A, Chartier-Harlin MC, Mullen M, et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 1991;349:704-6.
3. Murrell J, Farlow M, Ghetti B, Benson D. A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease. Science 1991;254:97-9.
4. Chartier-Harlin MC, Crawford F, Houlden H, et al. Early-onset Alzheimer's disease caused by mutations at codon 717 of the amyloid precursor protein gene. Nature 1991;353:844-6.
5. Schellenberg GD, Bird TD, Wijsman EM, et al. Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14. Science 1992;258:668-71.
6. St George-Hyslop P, Haines J, Rogaev E, et al. Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14. Nat Genet 1992;2:330-4.
7. Van Broeckhoven C, Backhovens H, Cruts M, et al. Mapping of a gene predisposing to early-onset Alzheimer's disease to chromosome 14q24.3. Nat Genet 1992;2:335-9.
8. Sherrington R, Rogaev EI, Liang Y, et al. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 1995;375:754-60.
9. Levy-Lahad E, Wijsman EM, Nemens E, et al. A familial Alzheimer's disease locus on chromosome 1. Science 1995;269:970-7.
10. Rogaev EI, Sherrington R, Rogaeva EA, et al. Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. Nature 1995;376:775-8.
11. Strittmater WJ, Roses AD. Apolipoprotein E and Alzheimer disease. Proc Natl Acad Sci USA 1995;92:4725-7.
12. Rubinsztein DC. Apolipoprotein E: a review of its roles in lipoprotein metabolism, neuronal growth and repair and as a risk factor for Alzheimer's disease. Psychol Med 1995;25:223-9.
13. Wallace DC. Diseases of the mitochondrial DNA. Annu Rev Biochem 1992;61:1175-212.
14. Parker WD, Filley CM, Parks JK. Cytochrome-oxidase deficiency in Alzheimer's disease. Neurology 1990;40:1302-3.
15. Sims NR, Finegan JM, Blass JP, Bowen DM, Neary D. Mitochondrial-function in brain-tissue in primary degenerative dementia. Brain Res 1987;436:30-8.