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

Yükleniyor...
Küçük Resim

Tarih

2020

Dergi Başlığı

Dergi ISSN

Cilt Başlığı

Yayıncı

Biomedpress

Erişim Hakkı

info:eu-repo/semantics/openAccess

Özet

Leigh 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.

Açıklama

Anahtar Kelimeler

Mitochondrial Genome, MT-ATP6, Leigh Syndrome, Clinical Feature, Mutation

Kaynak

Biomedical Research and Therapy

WoS Q Değeri

N/A

Scopus Q Değeri

Cilt

7

Sayı

5

Künye