HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

[A mitochondrial DNA mutation in the heteroplasmic tRNA-Tyr gene associated with chronic progressive external ophthalmoplegia--clinical and molecular biological study].

Abstract
Determination of the total mtDNA sequence of a 42 year-old female with chronic progressive external ophthalmoplegia (CPEO) revealed a heteroplasmic G-to-A transition at nt. 5877 in the tRNA-Tyr gene and a homoplasmic T-to-C transition in the tRNA-Gln gene at 4343. The former mutation was located in a highly conserved nucleotide in the DHU loop. This mutation by restriction enzyme analysis using Ddel was observed only in the blood of her two asymptomatic children and her mother. The tRNA-Gln mutation in the T psi C loop was found in a few controls and in all of her maternal relatives. The cybrid clones including tRNA-Tyr mutation showed decreased oxygen utilization and fragility against oxygen stress. This tRNA-Tyr mutation is tightly associated with CPEO.
AuthorsK Sahashi, T Ibi, M Yoneda, M Tanaka, K Ohno
JournalNihon rinsho. Japanese journal of clinical medicine (Nihon Rinsho) Vol. 55 Issue 12 Pg. 3265-9 (Dec 1997) ISSN: 0047-1852 [Print] Japan
PMID9436448 (Publication Type: Case Reports, English Abstract, Journal Article, Review)
Chemical References
  • DNA, Mitochondrial
  • RNA, Transfer, Gln
  • RNA, Transfer, Tyr
Topics
  • Adult
  • DNA, Mitochondrial (genetics)
  • Female
  • Gene Expression Regulation
  • Humans
  • Mutation
  • Ophthalmoplegia, Chronic Progressive External (genetics)
  • Oxygen Consumption (genetics)
  • RNA, Transfer, Gln (genetics)
  • RNA, Transfer, Tyr (genetics)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: