A Novel Amplification-Refractory Mutation System-PCR Strategy to Screen MT-TL1 Pathogenic Variants in Patient Repositories

Bulduk B. K., Kilic H. B., Bekircan-Kurt C. E., Haliloglu G., ERDEM ÖZDAMAR S., Topaloglu H., ...More

GENETIC TESTING AND MOLECULAR BIOMARKERS, vol.24, no.3, pp.165-170, 2020 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 24 Issue: 3
  • Publication Date: 2020
  • Doi Number: 10.1089/gtmb.2019.0079
  • Journal Name: GENETIC TESTING AND MOLECULAR BIOMARKERS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, Agricultural & Environmental Science Database, BIOSIS, Biotechnology Research Abstracts, CAB Abstracts, EMBASE, MEDLINE
  • Page Numbers: pp.165-170
  • Keywords: mitochondrial cytopathies, ARMS-PCR, HRM, mtDNA, mt-tRNA mutations, TRANSFER RNALEU(UUR) GENE, MITOCHONDRIAL TRANSCRIPTION TERMINATION, STROKE-LIKE EPISODES, POINT MUTATION, LACTIC-ACIDOSIS, MELAS SUBGROUP, DNA, MYOPATHY, MTDNA, CARDIOMYOPATHY
  • Hacettepe University Affiliated: Yes

Abstract

Aim: Pathogenic variants within mitochondrial tRNA and rRNA genes negatively affect protein synthesis function and cause oxidative phosphorylation defects. The majority of mitochondrial cytopathies are caused by pathogenic point variants within the mitochondrial tRNA gene for leucine (MT-TL1). This study was designed to evaluate a novel amplification-refractory mutation system (ARMS)-PCR based assay to screen patient samples with a clinical diagnosis of mitochondrial cytopathies.