Causes of death in pedigrees with the 3243A>G mutation in mitochondrial DNA

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 79, Issue 2, 2008, Pages 209-211

  Majamaa Voltti, Kirsi ^a   Turkka, J ^b   Kortelainen, M L ^a   Huikuri, H ^a   Majamaa, K ^a,c  

^a UNIVERSITY OF OULU   (Finland)

^b Käpylä Rehabilitation Centre   (Finland)

^c UNIVERSITY OF TURKU   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; ADENINE NUCLEOTIDE; AMINOACYL TRANSFER RNA; GUANINE NUCLEOTIDE; MITOCHONDRIAL PROTEIN; TRNA, LEUCINE; TRNA, LEUCINE-; UNCLASSIFIED DRUG;

ARTICLE; CARDIOVASCULAR DISEASE; CAUSE OF DEATH; DIABETES MELLITUS; EPILEPSY; GENE MUTATION; HEALTH SURVEY; HETEROZYGOTE; HUMAN; LIFESPAN; MORTALITY; NEUROLOGIC DISEASE; PRIORITY JOURNAL; SUDDEN DEATH; ADOLESCENT; ADULT; CARDIOMYOPATHY; CHILD; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EPILEPTIC STATE; FEMALE; FINLAND; GENETICS; HEART FAILURE; HETEROZYGOTE DETECTION; INFANT; KAPLAN MEIER METHOD; LIFE EXPECTANCY; MALE; NEWBORN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; SURVIVAL;

ADENINE NUCLEOTIDES; ADOLESCENT; ADULT; BASE SEQUENCE; CARDIOMYOPATHIES; CAUSE OF DEATH; CHILD; CHILD, PRESCHOOL; DEATH, SUDDEN; DIABETES MELLITUS; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; FINLAND; GUANINE NUCLEOTIDES; HEART FAILURE; HETEROZYGOTE DETECTION; HUMANS; INFANT; INFANT, NEWBORN; KAPLAN-MEIERS ESTIMATE; LIFE EXPECTANCY; MALE; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTEINS; NERVOUS SYSTEM DISEASES; PHENOTYPE; RNA, TRANSFER, AMINO ACYL; STATUS EPILEPTICUS; SURVIVAL ANALYSIS;

EID: 38849191213     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2007.122648     Document Type: Article

References (25)

1. Majamaa-Voltti KA, Winqvist S, Hemes AM, et al. A 3-year clinical follow-up of adult patients with 3243A>G in mitochondrial DNA. Neurology 2006;66:1470-5.
2. Terauchi A, Tamagawa K, Morimatsu Y, et al. An autopsy case of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) with a point mutation of mitochondrial DNA. Brain Dev 1996;18:224-9.
3. Remes AM, Liimatta EV, Winqvist S, et al. Ubiquinone and nicotinamide treatment of patients with the 3243A - >G mtDNA mutation. Neurology 2002;59:1275-7.
4. Kojima T, Yamamoto M, Furuhashi N, et al. Decrease of beta-cells and increase of alpha-cells in a diabetic patient with mitochondrial ONA 3243 (A - >G) mutation. Intern Med 2003;42:1193-6.
5. Mangiafico RA, Zeviani M, Bartoloni G, et al. Accelerated cardiomyopathy in maternally inherited diabetes and deafness. Int J Clin Pharmacol Res 2004;24:15-21.
6. Huang CC, Kuo HC, Chu CC, et al. Clinical phenotype, prognosis and mitochondrial DNA mutation load in mitochondrial encephalomyopathies. J Biomed Sci 2002;9:527-33.
7. Hiel JA, Verrips A, Keyser A, et al. Ileus in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes. Neth J Med 1998;53:27-31.
8. Majamaa K, Turkka J, Kärppä M, et al. The common MELAS mutation A3243G in mitochondrial DNA among young patients with an occipital brain infarct. Neurology 1997;49:1331-4.
9. Tsuchiya K, Miyazaki H, Akabane H, et al. MELAS with prominent white matter gliosis and atrophy of the cerebellar granular layer: a clinical, genetic, and pathological study. Acta Neuropathol (Berl) 1999;97:520-4.
10. Klopstock T, Jaksch M, Gasser T. Age and cause of death in mitochondrial diseases. Neurology 1999;53:855-7.
11. Okhuijsen-Kroes EJ, Trijbels JM, Sengers RC, et al. Infantile presentation of the mtDNA A3243G tRNA(Leu (UUR)) mutation. Neuropediatrics 2001;32:183-90.
12. Majamaa K, Moilanen JS, Uimonen S, et al. Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. Am J Hum Genet 1998;63:447-54.
13. Zipes DP, Wellens HJ. Sudden cardiac death. Circulation 1998;98:2334-51.
14. do Vreede-Swagemakers JJ, Gorgels AP, Dubois-Arbouw WI, et al. Out-of-hospital cardiac arrest in the 1990's: a population-based study in the Maastricht area on incidence, characteristics and survival. J Am Coll Cardiol 1997;30:1500-5.
15. Koskinen S, Martelin T. Kuolleisuus (Mortality). In: Notkola V, Pitkänen K, eds. Suomen väestö (Finnish population), 1st ed. Hämeenlinna: Gaudeamus, 1994:150-225.
16. Arpa J, Cruz-Martinez A, Campos Y, et al. Prevalence and progression of mitochondrial diseases: a study of 50 patients. Muscle Nerve 2003;28:690-5.
17. Huikuri HV, Castellanos A, Myerburg RJ. Sudden death due to cardiac arrhythmias. N Engl J Med 2001;345:1473-82.
18. Weston PJ, Gill GV. Is undetected autonomic dysfunction responsible for sudden death in Type 1 diabetes mellitus? The 'dead in bed' syndrome revisited. Diabet Med 1999;16:626-31.
19. Kannel WB, Wilson PW, D'Agostino RB, et al. Sudden coronary death in women. Am Heart J 1998;136:205-12.
20. Balkau B, Jouven X, Ducimetiere P, et al. Diabetes as a risk factor for sudden death. Lancet 1999;354:1968-9.
21. Jouven X, Lemaitre RN, Rea TD, et al. Diabetes, glucose level, and risk of sudden cardiac death. Eur Heart J 2005;26:2142- 7.
22. Leestma JE, Annegers JF, Brodie MJ, et al. Sudden unexplained death in epilepsy: observations from a large clinical development program. Epilepsia 1997;38:47-55.
23. Tellez-Zenteno JF, Ronquillo LH, Wiebe S. Sudden unexpected death in epilepsy: evidence-based analysis of incidence and risk factors. Epilepsy Res 2005;65:101-15.
24. Tattersall RB, Gill GV. Unexplained deaths of type 1 diabetic patients. Diabet Med 1991;8:49-58.
25. Statistics Finland. Elinajanodote (Life expectancy). Website of Statistics Finland.http://www.stat.fi/org/historia/elinajanodote (accessed 14 June 2006).