Literature DB >> 10399093

Single-cell analysis of mitochondrial DNA in patients and a carrier of the tRNA(Leu)(UUR) gene mutation.

S Saitoh1, M Y Momoi, T Yamagata, H Nakauchi, K Nihei, M Fujii.   

Abstract

We examined heteroplasmy of mutated mitochondrial DNA in single peripheral lymphocytes derived from 4 individuals carrying the nt 3243 A-to-G mutation, including two patients with MELAS, a patient with cardiomyopathy, deafness and diabetes mellitus, and the asymptomatic mother of one of the MELAS patients. In these subjects, all lymphocytes examined were heteroplasmic to different degrees, with a wider range of heteroplasmy evident in the symptomatic patients than in the healthy carrier.

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Year:  1999        PMID： 10399093     DOI： 10.1023/a:1005569711521

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  13 in total

1.  Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy.

Authors:  M Yoneda; A Chomyn; A Martinuzzi; O Hurko; G Attardi
Journal:  Proc Natl Acad Sci U S A       Date:  1992-12-01       Impact factor: 11.205

2.  A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes).

Authors:  Y Kobayashi; M Y Momoi; K Tominaga; T Momoi; K Nihei; M Yanagisawa; Y Kagawa; S Ohta
Journal:  Biochem Biophys Res Commun       Date:  1990-12-31       Impact factor: 3.575

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

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

4.  Intracellular heteroplasmy for disease-associated point mutations in mtDNA: implications for disease expression and evidence for mitotic segregation of heteroplasmic units of mtDNA.

Authors:  P M Matthews; R M Brown; K Morten; D Marchington; J Poulton; G Brown
Journal:  Hum Genet       Date:  1995-09       Impact factor: 4.132

5.  Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.

Authors:  R K Saiki; D H Gelfand; S Stoffel; S J Scharf; R Higuchi; G T Horn; K B Mullis; H A Erlich
Journal:  Science       Date:  1988-01-29       Impact factor: 47.728

6.  Single muscle fiber analysis of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).

Authors:  M Tokunaga; S Mita; T Murakami; T Kumamoto; M Uchino; I Nonaka; M Ando
Journal:  Ann Neurol       Date:  1994-04       Impact factor: 10.422

7.  Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome.

Authors:  S G Pavlakis; P C Phillips; S DiMauro; D C De Vivo; L P Rowland
Journal:  Ann Neurol       Date:  1984-10       Impact factor: 10.422

8.  Antigen-specific identification and cloning of hybridomas with a fluorescence-activated cell sorter.

Authors:  D R Parks; V M Bryan; V T Oi; L A Herzenberg
Journal:  Proc Natl Acad Sci U S A       Date:  1979-04       Impact factor: 11.205

9.  Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS).

Authors:  Y Kobayashi; M Y Momoi; K Tominaga; H Shimoizumi; K Nihei; M Yanagisawa; Y Kagawa; S Ohta
Journal:  Am J Hum Genet       Date:  1991-09       Impact factor: 11.025

10.  Variable distribution of mutant mitochondrial DNAs (tRNA(Leu[3243])) in tissues of symptomatic relatives with MELAS: the role of mitotic segregation.

Authors:  C Macmillan; B Lach; E A Shoubridge
Journal:  Neurology       Date:  1993-08       Impact factor: 9.910
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  2 in total

1.  Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A-->G mutation in blood.

Authors:  Harsha Karur Rajasimha; Patrick F Chinnery; David C Samuels
Journal:  Am J Hum Genet       Date:  2008-02       Impact factor: 11.025

2.  Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system.

Authors:  Sophie Monnot; Nadine Gigarel; David C Samuels; Philippe Burlet; Laetitia Hesters; Nelly Frydman; René Frydman; Violaine Kerbrat; Benoit Funalot; Jelena Martinovic; Alexandra Benachi; Josué Feingold; Arnold Munnich; Jean-Paul Bonnefont; Julie Steffann
Journal:  Hum Mutat       Date:  2011-01       Impact factor: 4.878
  2 in total

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