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Literature DB >> 11038324

A novel homoplasmic mutation in mtDNA with a single evolutionary origin as a risk factor for cardiomyopathy.

W S Shin¹, M Tanaka, J Suzuki, C Hemmi, T Toyo-oka.

Abstract

To clarify the relationship between variation in mtDNA and the development of cardiomyopathy (CM), the complete sequences of mtDNAs of two brothers with dilated CM were compared with those of 181 patients who had CM and with those of 168 control subjects. Five patients with CM shared a novel homoplasmic point mutation (G12192A tRNA(His)), and all of them demonstrated the evolutionarily related D-loop sequence. The results suggest that this novel mutation originated from the same ancestor and that its presence strongly predisposes carriers to CM.

Entities: Disease Mutation Species

Mesh：

Substances：
DNA, Mitochondrial

Year: 2000 PMID： 11038324 PMCID： PMC1287941 DOI： 10.1086/316896

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

13 in total

1. Pathogenesis of inherited forms of dilated cardiomyopathy.

Authors: R M Graham; W A Owens
Journal: N Engl J Med Date: 1999-12-02 Impact factor: 91.245

Review 2. Mitochondrial defects in cardiomyopathy and neuromuscular disease.

Authors: D C Wallace
Journal: Am Heart J Date: 2000-02 Impact factor: 4.749

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Journal: Annu Rev Biochem Date: 1992 Impact factor: 23.643

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Authors: A A Geisterfer-Lowrance; S Kass; G Tanigawa; H P Vosberg; W McKenna; C E Seidman; J G Seidman
Journal: Cell Date: 1990-09-07 Impact factor: 41.582

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Authors: Y Goto; I Nonaka; S Horai
Journal: Nature Date: 1990-12-13 Impact factor: 49.962

6. The neighbor-joining method: a new method for reconstructing phylogenetic trees.

Authors: N Saitou; M Nei
Journal: Mol Biol Evol Date: 1987-07 Impact factor: 16.240

Review 7. Mitochondrial diseases in man and mouse.

Authors: D C Wallace
Journal: Science Date: 1999-03-05 Impact factor: 47.728

8. Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients.

Authors: J M Shoffner; M D Brown; A Torroni; M T Lott; M F Cabell; S S Mirra; M F Beal; C C Yang; M Gearing; R Salvo
Journal: Genomics Date: 1993-07 Impact factor: 5.736

9. A mitochondrial DNA clone is associated with increased risk for Alzheimer disease.

Authors: T Hutchin; G Cortopassi
Journal: Proc Natl Acad Sci U S A Date: 1995-07-18 Impact factor: 11.205

Review 10. The management of hypertrophic cardiomyopathy.

Authors: P Spirito; C E Seidman; W J McKenna; B J Maron
Journal: N Engl J Med Date: 1997-03-13 Impact factor: 91.245

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1. Mitochondrial DNA diversity in indigenous populations of the southern extent of Siberia, and the origins of Native American haplogroups.

Authors: Elena B Starikovskaya; Rem I Sukernik; Olga A Derbeneva; Natalia V Volodko; Eduardo Ruiz-Pesini; Antonio Torroni; Michael D Brown; Marie T Lott; Seyed H Hosseini; Kirsi Huoponen; Douglas C Wallace
Journal: Ann Hum Genet Date: 2005-01 Impact factor: 1.670

2. Pathogenesis-related mutations in the T-loops of human mitochondrial tRNAs affect 3' end processing and tRNA structure.

Authors: Louis Levinger; Dmitri Serjanov
Journal: RNA Biol Date: 2012-03-01 Impact factor: 4.652

Review 10. Transfer RNA and human disease.

Authors: Jamie A Abbott; Christopher S Francklyn; Susan M Robey-Bond
Journal: Front Genet Date: 2014-06-03 Impact factor: 4.599

A novel homoplasmic mutation in mtDNA with a single evolutionary origin as a risk factor for cardiomyopathy.

1. Pathogenesis of inherited forms of dilated cardiomyopathy.

Review 2. Mitochondrial defects in cardiomyopathy and neuromuscular disease.

Review 3. Diseases of the mitochondrial DNA.

4. A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation.

5. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

6. The neighbor-joining method: a new method for reconstructing phylogenetic trees.

Review 7. Mitochondrial diseases in man and mouse.

8. Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients.

9. A mitochondrial DNA clone is associated with increased risk for Alzheimer disease.

Review 10. The management of hypertrophic cardiomyopathy.

1. Mitochondrial DNA diversity in indigenous populations of the southern extent of Siberia, and the origins of Native American haplogroups.

2. Pathogenesis-related mutations in the T-loops of human mitochondrial tRNAs affect 3' end processing and tRNA structure.

3. Mitochondrial tRNA glutamine variant in hypertrophic cardiomyopathy.

4. Whole mitochondrial genome analysis in Chinese patients with keratoconus.

5. Private mitochondrial DNA variants in danish patients with hypertrophic cardiomyopathy.

6. Human migration, diversity and disease association: a convergent role of established and emerging DNA markers.

7. Mosaicism of mitochondrial genetic variation in atherosclerotic lesions of the human aorta.

Review 8. Cardiovascular Disease, Mitochondria, and Traditional Chinese Medicine.

Review 9. Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes.

Review 10. Transfer RNA and human disease.