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Vol. 122, No. 2, 2012
Issue release date: August 2012

Raising Doubts about the Pathogenicity of Mitochondrial DNA Mutation m.3308T>C in Left Ventricular Hypertraveculation/Noncompaction

Salas A. · Elson J.L.
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References

  1. Zarrouk Mahjoub S, Mehri S, Ourda F, Boussaada R, Mechmeche R, Arab SB, Finsterer J: Transition m.3308T>C in the ND1 gene is associated with left ventricular hypertrabeculation/noncompaction. Cardiology 2011;118:153–158.
  2. Rocha H, Flores C, Campos Y, Arenas J, Vilarinho L, Santorelli FM, Torroni A: About the ‘pathological’ role of the mtDNA T3308C mutation. Am J Hum Genet 1999;65:1457–1459.
  3. Cerezo M, Achilli A, Olivieri A, Perego UA, Gómez-Carballa A, Brisighelli F, Lancioni H, Woodward SR, López-Soto M, Carracedo Á, Capelli C, Torroni A, Salas A: Reconstructing ancient mitochondrial DNA links between Africa and Europe. Genome Res 2012;22:821–826.
  4. Salas A, Richards M, Lareu MV, Scozzari R, Coppa A, Torroni A, Macaulay V, Carracedo Á: The African diaspora: mitochondrial DNA and the Atlantic slave trade. Am J Hum Genet 2004;74:454–465.
  5. Fadhlaoui-Zid K, Plaza S, Calafell F, Ben Amor M, Comas D, Bennamar El Gaaied A: Mitochondrial DNA heterogeneity in Tunisian Berbers. Ann Hum Genet 2004;68:222–233.
  6. Turchi C, Buscemi L, Giacchino E, Onofri V, Fendt L, Parson W, Tagliabracci A: Polymorphisms of mtDNA control region in Tunisian and Moroccan populations: an enrichment of forensic mtDNA databases with Northern Africa data. Forensic Sci Int Genet 2009;3:166–172.
  7. Cherni L, Fernandes V, Pereira JB, Costa MD, Goios A, Frigi S, Yacoubi-Loueslati B, Amor MB, Slama A, Amorim A, El Gaaied AB, Pereira L: Post-last glacial maximum expansion from Iberia to North Africa revealed by fine characterization of mtDNA H haplogroup in Tunisia. Am J Phys Anthropol 2009;253–260.

    External Resources

  8. Achilli A, Perego UA, Bravi CM, Coble MD, Kong Q-P, Woodward SR, Salas A, Torroni A, Bandelt H-J: The phylogeny of the four Pan-American mtDNA haplogroups: implications for evolutionary and disease studies. PLoS ONE 2008;3:e1764.

    External Resources

  9. Yarham JW, Al-Dosary M, Blakely EL, Alston CL, Taylor RW, Elson JL, McFarland R: A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations. Hum Mutat 2011;32:1319–1325.
  10. Li B, Krishnan VG, Mort ME, Xin F, Kamati KK, Cooper DN, Mooney SD, Radivojac P: Automated inference of molecular mechanisms of disease from amino acid substitutions. Bioinformatics 2009;25:2744–2750.
  11. Campos Y, Martin MA, Rubio JC, Gutierrez del Olmo MC, Cabello A, Arenas J: Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene. Biochem Biophys Res Commun 1997;238:323–325.
  12. Bandelt H-J, Yao Y-G, Salas A: The search of ‘novel’ mtDNA mutations in hypertrophic cardiomyopathy: MITOMAPping as a risk factor. Int J Cardiol 2008;126:439–442.

    External Resources

  13. Salas A, Yao Y-G, Macaulay V, Vega A, Carracedo A, Bandelt H-J: A critical reassessment of the role of mitochondria in tumorigenesis. PLoS Med 2005;2:e296.
  14. Bandelt H-J, Salas A: Contamination and sample mix-up can best explain some patterns of mtDNA instabilities in buccal cells and oral squamous cell carcinoma. BMC Cancer 2009;9:113.

    External Resources

  15. Vilarinho L, Chorao R, Cardoso ML, Rocha H, Nogueira C, Santorelli FM: The ND1 T3308C mutation may be a mtDNA polymorphism: report of two Portuguese patients. J Inherit Metab Dis 1999;22:90–91.
  16. Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N: Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 1999;23:147.


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