Inheritance of the m.3243A>G mutation

JIMD Reports

Volumn 8, Issue , 2013, Pages 47-50

  de Laat, Paul ^a   Koene, Saskia ^a   vd Heuvel, Lambert P W J ^a   Rodenburg, Richard J T ^a   Janssen, Mirian C H ^a   Smeitink, Jan A M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Detectable mutation; Genetic counseling; Mitochondrial disease; Mitochondrial myopathy; Young sibling

Indexed keywords

EID: 84888013662     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2012_159     Document Type: Chapter

References (21)

1. Chinnery PF, Johnson MA, Wardell TM et al (2000a) The epidemiology of pathogenic mitochondrial DNA mutations. Ann Neurol 48:188–193
2. Chinnery PF, Thorburn DR, Samuels DC et al (2000b) The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both? Trends Genet 16:500–505
3. Cree LM, Samuels DC, Chinnery PF (2009) The inheritance of pathogenic mitochondrial DNA mutations. Biochim Biophys Acta 1792:1097–1102
4. de Laat P, Koene S, van den Heuvel LP, Rodenburg RJ, Janssen MC and Smeitink JA (2012) Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A>G mutation. J Inherit Metab Dis [Epub ahead of print]
5. Frederiksen AL, Andersen PH, Kyvik KO, Jeppesen TD, Vissing J, Schwartz M (2006) Tissue specific distribution of the 3243A->G mtDNA mutation. J Med Genet 43:671–677
6. Goto Y, Nonaka I, Horai S (1990) A mutation in the tRNA(Leu) (UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 348:651–653
7. Greaves LC, Taylor RW (2006) Mitochondrial DNA mutations in human disease. IUBMB Life 58:143–151
8. Guillausseau PJ, Massin P, Dubois-LaForgue D et al (2001) Maternally inherited diabetes and deafness: a multicenter study. Ann Intern Med 134:721–728
9. Katulanda P, Groves CJ, Barrett A et al (2008) Prevalence and clinical characteristics of maternally inherited diabetes and deafness caused by the mt3243A > G mutation in young adult diabetic subjects in Sri Lanka. Diabet Med 25:370–374
10. Lev D, Nissenkorn A, Leshinsky-Silver E et al (2004) Clinical presentations of mitochondrial cardiomyopathies. Pediatr Cardiol 25:443–450
11. Lowik MM, Hol FA, Steenbergen EJ, Wetzels JF, van den Heuvel LP (2005) Mitochondrial tRNALeu(UUR) mutation in a patient with steroid-resistant nephrotic syndrome and focal segmental glo-merulosclerosis. Nephrol Dial Transplant 20:336–341
12. Ma Y, Fang F, Cao Y et al (2010) Clinical features of mitochondrial DNA m.3243A>G mutation in 47 Chinese families. J Neurol Sci 291(1–2):17–21
13. Ma Y, Fang F, Yang Y et al (2009) The study of mitochondrial A3243G mutation in different samples. Mitochondrion 9:139–143
14. Majamaa-Voltti KA, Winqvist S, Remes AM et al (2006) A 3-year clinical follow-up of adult patients with 3243A>G in mitochondrial DNA. Neurology 66:1470–1475
15. Majamaa K, Moilanen JS, Uimonen S et al (1998) 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 63:447–454
16. Manwaring N, Jones MM, Wang JJ et al (2007) Population prevalence of the MELAS A3243G mutation. Mitochondrion 7:230–233
17. Michaelides M, Jenkins SA, Bamiou DE et al (2008) Macular dystrophy associated with the A3243G mitochondrial DNA mutation. Distinct retinal and associated features, disease variability, and characterization of asymptomatic family members. Arch Ophthalmol 126:320–328
18. Parsons T, Weimer L, Engelstad K et al (2010) Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation. Arch Neurol 67:976–979
19. Poulton J, Kennedy S, Oakeshott P, Wells D (2009) Preventing transmission of maternally inherited mitochondrial DNA diseases. Bmj 338:b94
20. van den Ouweland JM, Lemkes HH, Ruitenbeek W et al (1992) Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 1:368–371
21. Whittaker RG, Blackwood JK, Alston CL et al (2009) Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation. Neurology 72:568–569