Mitochondrial DNA deletions cause the biochemical defect observed in Alzheimer's disease

Neurobiology of Aging

Volumn 33, Issue 9, 2012, Pages 2210-2214

  Krishnan, Kim J ^a   Ratnaike, Thiloka E ^a   De Gruyter, Heidi L M ^a   Jaros, Evelyn ^a,b,c   Turnbull, Doug M ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^c ROYAL VICTORIA INFIRMARY   (United Kingdom)

Author keywords

Aging; Alzheimer's disease; Mitochondrial DNA; Mitochondrial dysfunction; MtDNA deletions

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA;

AGED; AGING; ALZHEIMER DISEASE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOCHROME C OXIDASE DEFICIENCY; DISEASE ASSOCIATION; DNA DETERMINATION; GENE AMPLIFICATION; GENE DELETION; GENE FUNCTION; GENE LOCATION; GENE SEQUENCE; GENETIC ASSOCIATION; HIPPOCAMPUS; HUMAN; HUMAN CELL; HUMAN TISSUE; PRIORITY JOURNAL;

AGED; ALZHEIMER DISEASE; CASE-CONTROL STUDIES; CYTOCHROME-C OXIDASE DEFICIENCY; ELECTRON TRANSPORT COMPLEX IV; FEMALE; HUMANS; MALE; MITOCHONDRIA; NADH DEHYDROGENASE; NEURONS; POSTMORTEM CHANGES; RNA, MESSENGER; SEQUENCE DELETION;

EID: 84863446929     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2011.08.009     Document Type: Article

References (22)

1. Bender A., Krishnan K.J., Morris C.M., Taylor G.A., Reeve A.K., Perry R.H., Jaros E., Hersheson J.S., Betts J., Klopstock T., Taylor R.W., Turnbull D.M. High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease. Nat. Genet 2006, 38:515-517.
2. Bender A., Schwarzkopf R.M., McMillan A., Krishnan K.J., Rieder G., Neumann M., Elstner M., Turnbull D.M., Klopstock T. Dopaminergic midbrain neurons are the prime target for mitochondrial DNA deletions. J. Neurol 2008, 255:1231-1235.
3. Blennow K., de Leon M.J., Zetterberg H. Alzheimer's disease. Lancet 2006, 368:387-403.
4. Braak H., Braak E. Neuropathological stageing of Alzheimer-related changes. Acta Neuropathol 1991, 82:239-259.
5. Bua E., Johnson J., Herbst A., Delong B., McKenzie D., Salamat S., Aiken J.M. Mitochondrial DNA-deletion mutations accumulate intracellularly to detrimental levels in aged human skeletal muscle fibers. Am. J. Hum. Genet 2006, 79:469-480.
6. Campbell G.R., Ziabreva I., Reeve A.K., Krishnan K.J., Reynolds R., Howell O., Lassmann H., Turnbull D.M., Mahad D.J. Mitochondrial DNA deletions and neurodegeneration in multiple sclerosis. Ann. Neurol 2010, 2010:8.
7. Corral-Debrinski M., Horton T., Lott M.T., Shoffner J.M., McKee A.C., Beal M.F., Graham B.H., Wallace D.C. Marked changes in mitochondrial DNA deletion levels in Alzheimer brains. Genomics 1994, 23:471-476.
8. Cottrell D.A., Blakely E.L., Johnson M.A., Ince P.G., Borthwick G.M., Turnbull D.M. Cytochrome c oxidase deficient cells accumulate in the hippocampus and choroid plexus with age. Neurobiol. Aging 2001, 22:265-272.
9. Cottrell D.A., Blakely E.L., Johnson M.A., Ince P.G., Turnbull D.M. Mitochondrial enzyme-deficient hippocampal neurons and choroidal cells in AD. Neurology 2001, 57:260-264.
10. Hansson Petersen C.A., Alikhani N., Behbahani H., Wiehager B., Pavlov P.F., Alafuzoff I., Leinonen V., Ito A., Winblad B., Glaser E., Ankarcrona M. The amyloid beta-peptide is imported into mitochondria via the TOM import machinery and localized to mitochondrial cristae. Proc. Natl. Acad. Sci. U. S. A. 2008, 105:13145-13150.
11. He L., Chinnery P.F., Durham S.E., Blakely E.L., Wardell T.M., Borthwick G.M., Taylor R.W., Turnbull D.M. Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR. Nucleic Acids Res 2002, 30:e68.
12. Kish S.J., Bergeron C., Rajput A., Dozic S., Mastrogiacomo F., Chang L.J., Wilson J.M., DiStefano L.M., Nobrega J.N. Brain cytochrome oxidase in Alzheimer's disease. J. Neurochem 1992, 59:776-779.
13. Kraytsberg Y., Kudryavtseva E., McKee A.C., Geula C., Kowall N.W., Khrapko K. Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons. Nat. Genet 2006, 38:518-520.
14. Krishnan K.J., Bender A., Taylor R.W., Turnbull D.M. A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cells. Anal. Biochem 2007, 370:127-129.
15. Krishnan K.J., Reeve A.K., Samuels D.C., Chinnery P.F., Blackwood J.K., Taylor R.W., Wanrooij S., Spelbrink J.N., Lightowlers R.N., Turnbull D.M. What causes mitochondrial DNA deletions in human cells?. Nat. Genet 2008, 40:275-279.
16. Melberg A., Nennesmo I., Moslemi A.R., Kollberg G., Luoma P., Suomalainen A., Holme E., Oldfors A. Alzheimer pathology associated with POLG1 mutation, multiple mtDNA deletions, and APOE4/4: premature ageing or just coincidence?. Acta Neuropathol. (Berl.) 2005, 110:315-316.
17. Melov S., Shoffner J.M., Kaufman A., Wallace D.C. Marked increase in the number and variety of mitochondrial DNA rearrangements in aging human skeletal muscle. Nucleic Acids Res 1995, 23:4122-4126.
18. Mirra S.S., Heyman A., McKeel D., Sumi S.M., Crain B.J., Brownlee L.M., Vogel F.S., Hughes J.P., van Belle G., Berg L. The Consortium to Establish a Registry for Alzheimer's Disease (CERAD). Part II. Standardization of the neuropathologic assessment of Alzheimer's disease. Neurology 1991, 41:479-486.
19. Old S.L., Johnson M.A. Methods of microphotometric assay of succinate dehydrogenase and cytochrome c oxidase activities for use on human skeletal muscle. Histochem. J 1989, 21:545-555.
20. Parker W.D., Parks J., Filley C.M., Kleinschmidt-DeMasters B.K. Electron transport chain defects in Alzheimer's disease brain. Neurology 1994, 44:1090-1096.
21. Reeve A.K., Krishnan K.J., Elson J.L., Morris C.M., Bender A., Lightowlers R.N., Turnbull D.M. Nature of mitochondrial DNA deletions in substantia nigra neurons. Am. J. Hum. Genet 2008, 82:228-235.
22. Taylor R.W., Barron M.J., Borthwick G.M., Gospel A., Chinnery P.F., Samuels D.C., Taylor G.A., Plusa S.M., Needham S.J., Greaves L.C., Kirkwood T.B., Turnbull D.M. Mitochondrial DNA mutations in human colonic crypt stem cells. J. Clin. Invest 2003, 112:1351-1360.