Heteroplasmic m.1624C>T mutation of the mitochondrial tRNAVal gene in a proband and his mother with repeated consciousness disturbances

Mitochondrion

Volumn 12, Issue 6, 2012, Pages 617-622

  Sangatsuda, Yoko ^a   Nakamura, Masayuki ^a   Tomiyasu, Akiyuki ^a   Deguchi, Akiko ^a   Toyota, Yasutaka ^b   Goto, Yu Ichi ^c   Nishino, Ichizo ^c   Ueno, Shu Ichi ^b   Sano, Akira ^a  

^a KAGOSHIMA UNIVERSITY   (Japan)

^b EHIME UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

Heteroplasmy; Mitochondrial tRNAVal gene; Neuropsychiatric symptoms

Indexed keywords

CARBAMAZEPINE; CREATININE; HALOPERIDOL; LACTIC ACID; MITOCHONDRIAL RNA; MITOCHONDRIAL VALINE TANSFER RNA; PYRUVIC ACID; UNCLASSIFIED DRUG; VALINE TRANSFER RNA;

ADULT; AGED; AMINO ACID BLOOD LEVEL; ARTICLE; BRAIN ATROPHY; BRAIN INFARCTION; CASE REPORT; CEREBROSPINAL FLUID LEVEL; CLINICAL FEATURE; COGNITIVE DEFECT; CONSCIOUSNESS DISORDER; CONTROLLED STUDY; CREATININE BLOOD LEVEL; DNA SEQUENCE; ECHOCARDIOGRAPHY; EEG ABNORMALITY; FAMILY HISTORY; FEMALE; GENE MUTATION; HEART LEFT VENTRICLE HYPERTROPHY; HEMIPARESIS; HETEROPLASMY; HUMAN; HUMAN CELL; HUMAN TISSUE; LACTIC ACIDOSIS; MALE; MENTAL DISEASE; MUTATIONAL ANALYSIS; NEUROIMAGING; PERSONALITY DISORDER; PRIORITY JOURNAL; RESTLESSNESS; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CEREBROSPINAL FLUID; CONSCIOUSNESS DISORDERS; DNA, MITOCHONDRIAL; FEMALE; HUMANS; LACTIC ACID; MALE; POINT MUTATION; PYRUVIC ACID; RNA, TRANSFER, VAL;

EID: 84869084045     PISSN: 15677249     EISSN: 18728278     Source Type: Journal    
DOI: 10.1016/j.mito.2012.10.002     Document Type: Article

References (28)

1. Bai R.K., Wong L.J. Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: a single-step approach. Clin. Chem. 2004, 50:996-1001.
2. Borkowski J.G., Benton A.L., Spreen O. Word fluency and brain damage. Neuropsychologia 1967, 5:135-140.
3. Brandon M.C., Lott M.T., Nguyen K.C., Spolim S., Navathe S.B., Baldi P., Wallace D.C. MITOMAP: a human mitochondrial genome database-2004 update. Nucleic Acids Res. 2005, 33:D611-D613.
4. Choi B.O., Hwang J.H., Cho E.M., Jeong E.H., Hyun Y.S., Jeon H.J., Seong K.M., Cho N.S., Chung K.W. Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases. Exp. Mol. Med. 2010, 42:446-455.
5. Corrigan J.D., Hinkeldey N.S. Relationships between parts A and B of the Trail Making Test. J. Clin. Psychol. 1987, 43:402-409.
6. DiMauro S., Moraes C.T. Mitochondrial encephalomyopathies. Arch. Neurol. 1993, 50:1197-1208.
7. Fattal O., Budur K., Vaughan A.J., Franco K. Review of the literature on major mental disorders in adult patients with mitochondrial diseases. Psychosomatics 2006, 47:1-7.
8. Genasetti A., Valentino M.L., Carelli V., Vigetti D., Viola M., Karousou E.G., Melzi d'Eril G.V., De Luca G., Passi A., Pallotti F. Assessing heteroplasmic load in Leber's hereditary optic neuropathy mutation 3460G→A/MT-ND1 with a real-time PCR quantitative approach. J. Mol. Diagn. 2007, 9:538-545.
9. Ichiba M., Nakamura M., Kusumoto A., Mizuno E., Kurano Y., Matsuda M., Kato M., Agemura A., Tomemori Y., Muroya S., Nakabeppu Y., Sano A. Clinical and molecular genetic assessment of a chorea-acanthocytosis pedigree. J. Neurol. Sci. 2007, 263:124-132.
10. Jeppesen T.D., Schwartz M., Frederiksen A.L., Wibrand F., Olsen D.B., Vissing J. Muscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutation. Arch. Neurol. 2006, 63:1701-1706.
11. Kato M., Nakamura M., Ichiba M., Tomiyasu A., Shimo H., Higuchi I., Ueno S., Sano A. Mitochondrial DNA deletion mutations in patients with neuropsychiatric symptoms. Neurosci. Res. 2011, 69:331-336.
12. Laloi-Michelin M., Meas T., Ambonville C., Bellanne-Chantelot C., Beaufils S., Massin P., Vialettes B., Gin H., Timsit J., Bauduceau B., Bernard L., Bertin E., Blickle J.F., Cahen-Varsaux J., Cailleba A., Casanova S., Cathebras P., Charpentier G., Chedin P., Crea T., Delemer B., Dubois-Laforgue D., Duchemin F., Ducluzeau P.H., Bouhanick B., Dusselier L., Gabreau T., Grimaldi A., Guerci B., Jacquin V., Kaloustian E., Larger E., Lecleire-Collet A., Lorenzini F., Louis J., Mausset J., Murat A., Nadler-Fluteau S., Olivier F., Paquis-Flucklinger V., Paris-Bockel D., Raynaud I., Reznik Y., Riveline J.P., Schneebeli S., Sonnet E., Sola-Gazagnes A., Thomas J.L., Trabulsi B., Virally M., Guillausseau P.J. The clinical variability of maternally inherited diabetes and deafness is associated with the degree of heteroplasmy in blood leukocytes. J. Clin. Endocrinol. Metab. 2009, 94:3025-3030.
13. Macmillan C., Lach B., Shoubridge E.A. Variable distribution of mutant mitochondrial DNAs (tRNA(Leu[3243])) in tissues of symptomatic relatives with MELAS: the role of mitotic segregation. Neurology 1993, 43:1586-1590.
14. McFarland R., Clark K.M., Morris A.A., Taylor R.W., Macphail S., Lightowlers R.N., Turnbull D.M. Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation. Nat. Genet. 2002, 30:145-146.
15. Munakata K., Fujii K., Nanko S., Kunugi H., Kato T. Sequence and functional analyses of mtDNA in a maternally inherited family with bipolar disorder and depression. Mutat. Res. 2007, 617:119-124.
16. Nelson H.E. A modified card sorting test sensitive to frontal lobe defects. Cortex 1976, 12:313-324.
17. Newton C.R., Graham A., Heptinstall L.E., Powell S.J., Summers C., Kalsheker N., Smith J.C., Markham A.F. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res. 1989, 17:2503-2516.
18. Nomiyama T., Tanaka Y., Piao L., Hattori N., Uchino H., Watada H., Kawamori R., Ohta S. Accumulation of somatic mutation in mitochondrial DNA and atherosclerosis in diabetic patients. Ann. N. Y. Acad. Sci. 2004, 1011:193-204.
19. Olsson C., Johnsen E., Nilsson M., Wilander E., Syvanen A.C., Lagerstrom-Fermer M. The level of the mitochondrial mutation A3243G decreases upon ageing in epithelial cells from individuals with diabetes and deafness. Eur. J. Hum. Genet. 2001, 9:917-921.
20. Rollins B., Martin M.V., Sequeira P.A., Moon E.A., Morgan L.Z., Watson S.J., Schatzberg A., Akil H., Myers R.M., Jones E.G., Wallace D.C., Bunney W.E., Vawter M.P. Mitochondrial variants in schizophrenia, bipolar disorder, and major depressive disorder. PLoS One 2009, 4:e4913.
21. Val carrying the pathogenic C25U mutation. Nucleic Acids Res. 2008, 36:3065-3074.
22. Rossignol D.A., Frye R.E. Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis. Mol. Psychiatry 2012, 17:290-314.
23. Sakiyama Y., Okamoto Y., Higuchi I., Inamori Y., Sangatsuda Y., Michizono K., Watanabe O., Hatakeyama H., Goto Y., Arimura K., Takashima H. A new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy. Acta Neuropathol. 2011, 121:775-783.
24. Shiraiwa N., Ishii A., Iwamoto H., Mizusawa H., Kagawa Y., Ohta S. Content of mutant mitochondrial DNA and organ dysfunction in a patient with a MELAS subgroup of mitochondrial encephalomyopathies. J. Neurol. Sci. 1993, 120:174-179.
25. 't Hart L.M., Jansen J.J., Lemkes H.H., de Knijff P., Maassen J.A. Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon aging. Hum. Mutat. 1996, 7:193-197.
26. Wechsler D. WAIS-R Manual 1981, The psychological Corporation, San Antonio, TX, U.S.A.
27. Wechsler D. WAIS-III Administration and Scoring Manual 1997, The psychological Corporation, San Antonio, TX, U.S.A.
28. Zhang C., Liu V.W., Addessi C.L., Sheffield D.A., Linnane A.W., Nagley P. Differential occurrence of mutations in mitochondrial DNA of human skeletal muscle during aging. Hum. Mutat. 1998, 11:360-371.