Association of a point mutation(m.9176T>G) of the MT-ATP6 genewith Leigh syndrome: A case report

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dc.contributor.authorKhailany, Rozhgar A.
dc.contributor.authorGilani, Naser
dc.contributor.authorOzaslan, Mehmet
dc.contributor.authorSafdar, Muhamad
dc.contributor.authorAl-Shamari, Ihsan
dc.contributor.authorKanabe, Belan O.
dc.contributor.authorSaadat, Khandakar A. S. M.
dc.date.accessioned2024-10-29T17:43:31Z
dc.date.available2024-10-29T17:43:31Z
dc.date.issued2020
dc.departmentTekirdağ Namık Kemal Üniversitesien_US
dc.description.abstractLeigh Syndrome (LS) is an uncommon progressive neurodegenerative mitochondrial disorder. The condition is characterized by progressive mental and developmental disabilities (psychomotor regression) and commonly brings about death within a few years of diagnosis, more often due to respiratory failure. In a small number of patients the disorder does not manifest until adulthood. The principal indications of Leigh syndrome found in early stages typically are diarrhea, vomiting, and difficulty swallowing (dysphagia), which disturbs eating. These problems usually result in powerlessness to develop and put on weight under the normal rate (failure to thrive). Serious movement and muscle problems are basic in Leigh syndrome. In this case report, we introduce the molecular and clinical features of a 19-year-old female as proband, and also, we study other members of the family consequently. The m.9176T>G heteroplasmic mutation in the MT-ATP6 gene was detected by high-resolution melt (HRM) and DNA sequencing techniques. Similarly, the m.9176T>G was heteroplasmic in the mother. In conclusion, this report in compliance with previous studies underlines the necessity of further research on prenatal distinguishing proof of the responsible mutations and avoidance of the disease in families with known cases. © 2020 Biomedpress.en_US
dc.identifier.doi10.15419/BMRAT.V7I5.601
dc.identifier.endpage3743en_US
dc.identifier.issn2198-4093
dc.identifier.issue5en_US
dc.identifier.scopus2-s2.0-85192663270en_US
dc.identifier.startpage3739en_US
dc.identifier.urihttps://doi.org/10.15419/BMRAT.V7I5.601
dc.identifier.urihttps://hdl.handle.net/20.500.11776/12440
dc.identifier.volume7en_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherBiomedPressen_US
dc.relation.ispartofBiomedical Research and Therapyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectClinical featureen_US
dc.subjectLeigh syndromeen_US
dc.subjectMitochondrial genomeen_US
dc.subjectMT-ATP6en_US
dc.subjectMutationen_US
dc.titleAssociation of a point mutation(m.9176T>G) of the MT-ATP6 genewith Leigh syndrome: A case reporten_US
dc.typeArticleen_US

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