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Literature DB >> 1709275

Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases.

J Lauber¹, C Marsac, B Kadenbach, P Seibel.

Abstract

We have sequenced the tRNA genes of mtDNA from patients with chronic progressive external ophthalmoplegia (CPEO) without detectable mtDNA deletions. Four point mutations were identified, located within highly conserved regions of mitochondrial tRNA genes, namely tRNA(Leu)(UAG), tRNA(Ser)(GCU), tRNA(Gly) and tRNA(Lys). One of these mutations (tRNA(Leu)(UAG)) was found in four patients with different forms of mitochondrial myopathy. An accumulation of three different tRNA point mutations (tRNA(Leu)(UAG)), tRNA(Ser)(GCU) and tRNA(Gly) was observed in a single patient, suggesting that mitochondrial tRNA genes represent hotspots for point mutations causing neuromuscular diseases.

Entities: Chemical Disease Gene Species

Mesh：

Substances：

Year: 1991 PMID： 1709275 PMCID： PMC333891 DOI： 10.1093/nar/19.7.1393

Source DB: PubMed Journal: Nucleic Acids Res ISSN： 0305-1048 Impact factor: 16.971

30 in total

1. Identification of point mutations by mispairing PCR as exemplified in MERRF disease.

Authors: P Seibel; F Degoul; N Romero; C Marsac; B Kadenbach
Journal: Biochem Biophys Res Commun Date: 1990-12-14 Impact factor: 3.575

2. Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome.

Authors: S Shanske; C T Moraes; A Lombes; A F Miranda; E Bonilla; P Lewis; M A Whelan; C A Ellsworth; S DiMauro
Journal: Neurology Date: 1990-01 Impact factor: 9.910

3. Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome.

Authors: A Rotig; M Colonna; J P Bonnefont; S Blanche; A Fischer; J M Saudubray; A Munnich
Journal: Lancet Date: 1989-04-22 Impact factor: 79.321

4. Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease.

Authors: D C Wallace; X X Zheng; M T Lott; J M Shoffner; J A Hodge; R I Kelley; C M Epstein; L C Hopkins
Journal: Cell Date: 1988-11-18 Impact factor: 41.582

5. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.

Authors: D C Wallace; G Singh; M T Lott; J A Hodge; T G Schurr; A M Lezza; L J Elsas; E K Nikoskelainen
Journal: Science Date: 1988-12-09 Impact factor: 47.728

6. Assignment of two mitochondrially synthesized polypeptides to human mitochondrial DNA and their use in the study of intracellular mitochondrial interaction.

Authors: N A Oliver; D C Wallace
Journal: Mol Cell Biol Date: 1982-01 Impact factor: 4.272

7. Maternal inheritance of deleted mitochondrial DNA in a family with mitochondrial myopathy.

Authors: T Ozawa; M Yoneda; M Tanaka; K Ohno; W Sato; H Suzuki; M Nishikimi; M Yamamoto; I Nonaka; S Horai
Journal: Biochem Biophys Res Commun Date: 1988-08-15 Impact factor: 3.575

8. Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency: neuropathology, biochemistry, and molecular genetics.

Authors: A Lombes; J R Mendell; H Nakase; R J Barohn; E Bonilla; M Zeviani; A J Yates; J Omerza; T L Gales; K Nakahara
Journal: Ann Neurol Date: 1989-07 Impact factor: 10.422

9. Deletions of mitochondrial DNA in Kearns-Sayre syndrome.

Authors: M Zeviani; C T Moraes; S DiMauro; H Nakase; E Bonilla; E A Schon; L P Rowland
Journal: Neurology Date: 1988-09 Impact factor: 9.910

10. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies.

Authors: I J Holt; A E Harding; J A Morgan-Hughes
Journal: Nature Date: 1988-02-25 Impact factor: 49.962

24 in total

Review 1. Molecular biology of neurological diseases.

Authors: W J Cumming
Journal: Postgrad Med J Date: 1992-04 Impact factor: 2.401

Review 2. Diseases resulting from mitochondrial DNA point mutations.

Authors: D C Wallace; M T Lott; J M Shoffner; M D Brown
Journal: J Inherit Metab Dis Date: 1992 Impact factor: 4.982

3. Chloroplast heteroplasmicity is stabilized by an amber-suppressor tryptophan tRNA(CUA).

Authors: W Yu; R J Spreitzer
Journal: Proc Natl Acad Sci U S A Date: 1992-05-01 Impact factor: 11.205

4. The sequence of human mtDNA: the question of errors versus polymorphisms.

Authors: N Howell; D A McCullough; I Kubacka; S Halvorson; D Mackey
Journal: Am J Hum Genet Date: 1992-06 Impact factor: 11.025

5. Different in situ hybridization patterns of mitochondrial DNA in cytochrome c oxidase-deficient extraocular muscle fibres in the elderly.

Authors: J Müller-Höcker; P Seibel; K Schneiderbanger; B Kadenbach
Journal: Virchows Arch A Pathol Anat Histopathol Date: 1993

Review 6. Mitochondrial DNA mutations and pathogenesis.

Authors: E A Schon; E Bonilla; S DiMauro
Journal: J Bioenerg Biomembr Date: 1997-04 Impact factor: 2.945

7. Classification of European mtDNAs from an analysis of three European populations.

Authors: A Torroni; K Huoponen; P Francalacci; M Petrozzi; L Morelli; R Scozzari; D Obinu; M L Savontaus; D C Wallace
Journal: Genetics Date: 1996-12 Impact factor: 4.562

Review 8. Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification.

Authors: Gert Van Goethem; Jean-Jacques Martin; Christine Van Broeckhoven
Journal: Neuromolecular Med Date: 2003 Impact factor: 3.843

9. Mutations in mitochondrial tRNA genes: non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegia.

Authors: J M van den Ouweland; G J Bruining; D Lindhout; J M Wit; B F Veldhuyzen; J A Maassen
Journal: Nucleic Acids Res Date: 1992-02-25 Impact factor: 16.971

10. A novel mitochondrial tRNA(Val) T1658C mutation identified in a CPEO family.

Authors: Naihong Yan; Shuping Cai; Bo Guo; Yi Mou; Jing Zhu; Jun Chen; Ting Zhang; Ronghua Li; Xuyang Liu
Journal: Mol Vis Date: 2010-08-25 Impact factor: 2.367