Skip to main content
NCBI home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1997 Jul;34(7):607–609. doi: 10.1136/jmg.34.7.607

The mitochondrial A3243G mutation presenting as severe cardiomyopathy.

L Vilarinho 1, F M Santorelli 1, M J Rosas 1, C Tavares 1, M Melo-Pires 1, S DiMauro 1
PMCID: PMC1051008  PMID: 9222976

Abstract

A 6 year old Portuguese boy with dilated cardiomyopathy had abundant ragged red fibres in muscle (20% of total) and severe lactic acidosis. Molecular genetic analysis showed the A to G transition in the mitochondrial transfer RNALeu(UUR) gene at nt 3243 ("MELAS mutation"), which accounted for 88% and 68% of the total mtDNA in his muscle and blood, respectively. Molecular studies in blood from 16 maternal relatives identified lower percentages of the mutation only in the oligo-symptomatic mother and brother. This case reinforces the notion that cardiomyopathy can be the presenting and predominant clinical expression of the A3243G mutation.

Full text

PDF
607

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Anan R., Nakagawa M., Miyata M., Higuchi I., Nakao S., Suehara M., Osame M., Tanaka H. Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects. Circulation. 1995 Feb 15;91(4):955–961. doi: 10.1161/01.cir.91.4.955. [DOI] [PubMed] [Google Scholar]
  2. Damian M. S., Seibel P., Reichmann H., Schachenmayr W., Laube H., Bachmann G., Wassill K. H., Dorndorf W. Clinical spectrum of the MELAS mutation in a large pedigree. Acta Neurol Scand. 1995 Nov;92(5):409–415. doi: 10.1111/j.1600-0404.1995.tb00156.x. [DOI] [PubMed] [Google Scholar]
  3. DiMauro S., Servidei S., Zeviani M., DiRocco M., DeVivo D. C., DiDonato S., Uziel G., Berry K., Hoganson G., Johnsen S. D. Cytochrome c oxidase deficiency in Leigh syndrome. Ann Neurol. 1987 Oct;22(4):498–506. doi: 10.1002/ana.410220409. [DOI] [PubMed] [Google Scholar]
  4. Goto Y., Nonaka I., Horai S. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature. 1990 Dec 13;348(6302):651–653. doi: 10.1038/348651a0. [DOI] [PubMed] [Google Scholar]
  5. Hammans S. R., Sweeney M. G., Hanna M. G., Brockington M., Morgan-Hughes J. A., Harding A. E. The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study. Brain. 1995 Jun;118(Pt 3):721–734. doi: 10.1093/brain/118.3.721. [DOI] [PubMed] [Google Scholar]
  6. Hirano M., Pavlakis S. G. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts. J Child Neurol. 1994 Jan;9(1):4–13. doi: 10.1177/088307389400900102. [DOI] [PubMed] [Google Scholar]
  7. Marin-Garcia J., Goldenthal M. J., Ananthakrishnan R., Pierpont M. E., Fricker F. J., Lipshultz S. E., Perez-Atayde A. Mitochondrial function in children with idiopathic dilated cardiomyopathy. J Inherit Metab Dis. 1996;19(3):309–312. doi: 10.1007/BF01799259. [DOI] [PubMed] [Google Scholar]
  8. McShane M. A., Hammans S. R., Sweeney M., Holt I. J., Beattie T. J., Brett E. M., Harding A. E. Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA. Am J Hum Genet. 1991 Jan;48(1):39–42. [PMC free article] [PubMed] [Google Scholar]
  9. Moraes C. T., Ciacci F., Silvestri G., Shanske S., Sciacco M., Hirano M., Schon E. A., Bonilla E., DiMauro S. Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA. Neuromuscul Disord. 1993 Jan;3(1):43–50. doi: 10.1016/0960-8966(93)90040-q. [DOI] [PubMed] [Google Scholar]
  10. Moraes C. T., Ricci E., Bonilla E., DiMauro S., Schon E. A. The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle. Am J Hum Genet. 1992 May;50(5):934–949. [PMC free article] [PubMed] [Google Scholar]
  11. Pavlakis S. G., Phillips P. C., DiMauro S., De Vivo D. C., Rowland L. P. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann Neurol. 1984 Oct;16(4):481–488. doi: 10.1002/ana.410160409. [DOI] [PubMed] [Google Scholar]
  12. Shanske A. L., Shanske S., Silvestri G., Tanji K., Wertheim D., Lipper S. MELAS point mutation with unusual clinical presentation. Neuromuscul Disord. 1993 May;3(3):191–193. doi: 10.1016/0960-8966(93)90058-r. [DOI] [PubMed] [Google Scholar]
  13. Shapira Y., Cederbaum S. D., Cancilla P. A., Nielsen D., Lippe B. M. Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia. Neurology. 1975 Jul;25(7):614–621. doi: 10.1212/wnl.25.7.614. [DOI] [PubMed] [Google Scholar]
  14. Tanaka M., Ino H., Ohno K., Hattori K., Sato W., Ozawa T., Tanaka T., Itoyama S. Mitochondrial mutation in fatal infantile cardiomyopathy. Lancet. 1990 Dec 8;336(8728):1452–1452. doi: 10.1016/0140-6736(90)93162-i. [DOI] [PubMed] [Google Scholar]
  15. Williams R. S. Cardiac involvement in mitochondrial diseases, and vice versa. Circulation. 1995 Feb 15;91(4):1266–1268. doi: 10.1161/01.cir.91.4.1266. [DOI] [PubMed] [Google Scholar]
  16. van den Ouweland J. M., Lemkes H. H., Ruitenbeek W., Sandkuijl L. A., de Vijlder M. F., Struyvenberg P. A., van de Kamp J. J., Maassen J. A. Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet. 1992 Aug;1(5):368–371. doi: 10.1038/ng0892-368. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES