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

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dc.authorid0000-0001-9380-4902
dc.authorid0000-0002-2106-130X
dc.authorwosidOzaslan, Mehmet/T-5549-2018
dc.authorwosidSaadat, Khandakar A.S.M./AAG-5761-2020
dc.contributor.authorKhailany, Rozhgar A.
dc.contributor.authorGilani, Naser
dc.contributor.authorÖzaslan, Mehmet
dc.contributor.authorSafdar, Muhamad
dc.contributor.authorAl-Shamari, Ihsan
dc.contributor.authorKanabe, Belan O.
dc.contributor.authorArslan, Ahmet
dc.date.accessioned2022-05-11T14:42:08Z
dc.date.available2022-05-11T14:42:08Z
dc.date.issued2020
dc.departmentFakülteler, Tıp Fakültesi, Temel Tıp Bilimleri Bölümü, Tıbbi Biyoloji Ana Bilim Dalı
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.
dc.identifier.doi10.15419/bmrat.v7i5.601
dc.identifier.endpage3743
dc.identifier.issn2198-4093
dc.identifier.issue5en_US
dc.identifier.startpage3739
dc.identifier.urihttps://doi.org/10.15419/bmrat.v7i5.601
dc.identifier.urihttps://hdl.handle.net/20.500.11776/9237
dc.identifier.volume7
dc.identifier.wosWOS:000536540900001
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.institutionauthorArslan, Ahmet
dc.language.isoen
dc.publisherBiomedpress
dc.relation.ispartofBiomedical Research and Therapy
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectMitochondrial Genome
dc.subjectMT-ATP6
dc.subjectLeigh Syndrome
dc.subjectClinical Feature
dc.subjectMutation
dc.titleAssociation of a point mutation (m.9176T > G) of the MT-ATP6 gene with Leigh syndrome: A case report
dc.typeArticle

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