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First description of a novel mitochondrial mutation in the MT-TI gene associated with multiple mitochondrial DNA deletion and depletion in family with severe dilated mitochondrial cardiomyopathy
Molecular and Functional Genetics Laboratory, Faculty of Science of Sfax, University of Sfax, Tunisia.
Linköpings universitet, Institutionen för klinisk och experimentell medicin, Avdelningen för cellbiologi. Linköpings universitet, Medicinska fakulteten.
Molecular and Functional Genetics Laboratory, Faculty of Science of Sfax, University of Sfax, Tunisia.
Department of Medical Genetics, Hédi Chaker Hospital, Sfax, Tunisia.
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2018 (Engelska)Ingår i: Biochemical and Biophysical Research Communications - BBRC, ISSN 0006-291X, E-ISSN 1090-2104, Vol. 497, nr 4, s. 1049-1054Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

Mitochondria are essential for early cardiac development and impaired mitochondria] function was described associated with heart diseases such as hypertrophic or dilated mitochondrial cardiomyopathy. In this study, we report a family including two individuals with severe dilated mitochondrial cardiomyopathy. The whole mitochondrial genome screening showed the presence of several variations and a novel homoplasmic mutation m.4318-4322deIC in the MT-TI gene shared by the two patients and their mother and leading to a disruption of the tRNA(IIe) secondary structure. In addition, a mitochondrial depletion was present in blood leucocyte of the two affected brother whereas a de novo heteroplasmic multiple deletion in the major arc of mtDNA was present in blood leucocyte and mucosa of only one of them. These deletions in the major arc of the mtDNA resulted to the loss of several protein-encoding genes and also some tRNA genes. The mtDNA deletion and depletion could result to an impairment of the oxidative phosphorylation and energy metabolism in the respiratory chain in the studied patients. Our report is the first description of a family with severe lethal dilated mitochondrial cardiomyopathy and presenting several mtDNA abnormalities including punctual mutation, deletion and depletion.

Ort, förlag, år, upplaga, sidor
Elsevier, 2018. Vol. 497, nr 4, s. 1049-1054
Nyckelord [en]
Dilated mitochondrial cardiomyopathy; MT-TI gene; Mitochondrial deletion; Mitochondrial depletion
Nationell ämneskategori
Medicinsk genetik
Identifikatorer
URN: urn:nbn:se:liu:diva-147417DOI: 10.1016/j.bbrc.2018.02.173ISI: 000428228400018PubMedID: 29481798Scopus ID: 2-s2.0-85042566807OAI: oai:DiVA.org:liu-147417DiVA, id: diva2:1206649
Anmärkning

Funding Agencies|Ministry of the Higher Education and the Scientific Research in Tunisia

Tillgänglig från: 2018-05-17 Skapad: 2018-05-17 Senast uppdaterad: 2018-05-25Bibliografiskt granskad

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