Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy

Obayashi, Toshihiro; Hattori, Kazuki; Sugiyama, Satoru; Tanaka, Masashi; Tanaka, Taihei; Itoyama, Shinji; Deguchi, Hirofumi; Kawamura, Keishiro; Koga, Yoshinori; Toshima, Hironori; Takeda, Nobuakira; Nagano, Makoto; Itō, Takayuki; Ozawa, Takayuki

doi:10.1016/0002-8703(92)90410-w

Cited by 115 publications

(50 citation statements)

References 18 publications

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“…1). This change is considered a harmless polymorphism, based on studies of amino acid residue substitutions [14], and was found through sequence analysis in 1 patient with hypertrophic cardiomyopathy [15, 16], 1 with PD [4] and 1 multiple sclerosis control subject [5]. This is a highly conserved nucleotide among the hominoid primates (data not shown), as well as nucleotides 3339 and 3340, which do not occur with nucleotide 3337.…”

Section: Resultsmentioning

confidence: 99%

Mitochondrial DNA Variants in a Portuguese Population of Patients with Alzheimer’s Disease

Grazina

Silva²,

Santana³

et al. 2005

Eur Neurol

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Alzheimer’s disease (AD) is the most common neurodegenerative disorder associated with dementia in late adulthood. Mitochondrial respiratory chain impairment has been detected in the brain, muscle, fibroblasts and platelets of AD patients, indicating a possible involvement of mitochondrial DNA (mtDNA) in the etiology of the disease. Several reports have identified mtDNA mutations in AD patients, but there is no consensual opinion regarding the cause of the impairment. We have studied mtDNA NADH dehydrogenase subunit 1 nucleotides 3337–3340, searching for mutations. Our study group included 129 AD patients and 125 healthy age-matched controls. We have found alterations in two AD patients: one had two already known mtDNA modifications (3197 T-C and 3338 T-C) and the other a novel transition (3199 T-C) which, to our knowledge, has not been described before.

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Section: Resultsmentioning

confidence: 99%

Mitochondrial DNA Variants in a Portuguese Population of Patients with Alzheimer’s Disease

Grazina

Silva²,

Santana³

et al. 2005

Eur Neurol

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“…16 Of these mutations, six caused amino acid replacement, 14 caused no replacement of amino acids, and three mutations caused abnormalities in ribosomal RNA (rRNA). In the analysis, if any of these mutations were also observed in the control subjects they were excluded.…”

Section: Resultsmentioning

confidence: 99%

“…Because sequence variations are observed in human mtDNA, we compared mutations in the patients' hearts with those in autopsied hearts obtained from a 28-year-old woman who had died of pulmonary embolism, a 48-year-old woman who had died of pneumonia, a 55-year-old man who had died of gastric cancer, and an 83-year-old man who had died of hepatic failure as previously reported. 16 Cardiac catheterization and endomyocardial biopsy…”

Section: Patient Characteristicsmentioning

confidence: 99%

“…11 The presence of point mutations and deletions in the mtDNA is associated with various diseases, including mitochondrial encephalomyopathy and cardiomyopathy. [12][13][14][15][16][17][18][19] Our objective was to investigate whether ACM patients carried abnormalities in their mtDNA. We therefore analyzed the entire mtDNA sequences in patients with ACM and compared the findings with those of controls.…”

Section: Introductionmentioning

confidence: 99%

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Point mutations in mitochondrial DNA of patients with alcoholic cardiomyopathy

et al. 2000

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The pathogenesis of alcoholic cardiomyopathy (ACM) is not well understood. However, recent reports have shown that mutations in mitochondrial DNA (mtDNA) were associated with mitochondrial encephalomyopathy and cardiomyopathy. Our objective was to explore point mutations in mtDNA and the pathogenesis of ACM. We obtained heart biopsy specimens from ten male habitual drinkers with congestive heart failure. We amplified the total mtDNA obtained from these specimens using a two-step polymerase chain reaction method and analyzed the products using automated fluorescence-based direct sequencing. The sequences were compared with those of controls. MtDNA from the ACM patients contained multiple point mutations. Specifically, four of the ten patients carried five point mutations that had been detected previously in several other mitochondrial diseases. These point mutations were not observed in controls. These results suggest that mtDNA abnormalities are involved in the pathogenesis of ACM.

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“…The reverse primer extended from np 14855 to np 14874 (3'-to-5'). (8,12,13,28,(32)(33)(34)(35)(36)(37)(38)(39)(40), indicating that they are very common polymorphisms or "errors" in the published sequence. Four ofthe site variants, anAlu I site loss at np 5176, a Dde I site gain at np 10394, an Alu I site gain at np 10397, and a Hae III site gain at np 16517, are common nonpathogenic polymorphisms characteristic of certain human populations (28,32,34,35).…”

Section: Methodsmentioning

confidence: 99%

A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia.

Jun

Brown

Wallace

1994

Proc. Natl. Acad. Sci. U.S.A.

275

142

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A five-generation Hispanic family expressing maternally transmitted Leber hereditary optic neuropathy and/or early-onset dystonia associated with bilateral basal ganglia lesions was studied. Buffy coat mitochondrial DNA (mtDNA) from a severely affected child was amplified by the polymerase chain reaction and greater than 90% sequenced. The mtDNA proved to be a Native American haplogroup D genotype and differed from the standard "Cambridge" sequence at 40 nucleotide positions. One of these variants, a G-to-A transition at nucleotide pair (np) 14459, changed a moderately conserved alanine to a valine at NADH dehydrogenase subunit 6 (ND6) residue 72. The np 14459 variant was not found in any of 38 Native American haplogroup D mtDNAs, nor was it detected in 108 Asian, 103 Caucasian, or 99 African mtDNAs. Six maternal relatives in three generations were tested and were found to harbor the mutation, with one female affected with Leber hereditary optic neuropathy being heteroplasmic. Thus, the np 14459 G-to-A missense mutation is specific to this family, alters a moderately conserved amino acid in a complex I gene, is a unique mtDNA variant in Native American haplogroup D, and is heteroplasmic, suggesting that it is the disease-causing mutation.

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Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy

Cited by 115 publications

References 18 publications

Mitochondrial DNA Variants in a Portuguese Population of Patients with Alzheimer’s Disease

Mitochondrial DNA Variants in a Portuguese Population of Patients with Alzheimer’s Disease

Point mutations in mitochondrial DNA of patients with alcoholic cardiomyopathy

A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia.

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