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

Authors

  • Rozhgar A. Khailany Department of Biology, College of Science, Salahaddin University-Erbil, Iraq
  • Naser Gilani Department of Biology, Gaziantep University, 27310 Gaziantep, Turkey
  • Mehmet Ozaslan Department of Biology, Gaziantep University, 27310 Gaziantep, Turkey
  • Muhamad Safdar Department of Breeding and Genetics, Cholistan University of Veterinary & Animal Sciences, Bahawalpur, Pakistan
  • Ihsan Al-Shamari Department of Internal Medicine, Hawler Medical University, Erbil, Iraq
  • Belan O. Kanabe Department of Biology, Gaziantep University, 27310 Gaziantep, Turkey
  • Khandakar A. S. M. Saadat Department of Medical Biology, Faculty of Medicine, University of Gaziantep, Gaziantep, Turkey
  • Javad Homayounvash Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  • Amir Monfaredan Department of Hematology, Faculty of Medicine, Tabriz Branch, Islamic Azad University, Tabriz, Iran
  • Mustafa S. Al-Attar Department of Environmental Science, College of Science, Salahaddin University-Erbil, Iraq
  • Ahmet Arslan Department of Medical Biology, Faculty of Medicine, Namık Kemal University, Tekirdag, Turkey

DOI:

https://doi.org/10.15419/bmrat.v7i5.601

Keywords:

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

Abstract

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.

 

Author Biography

  • Rozhgar A. Khailany, Department of Biology, College of Science, Salahaddin University-Erbil, Iraq

    rozhgar.mohammed@su.edu.krd

Published

2020-05-25

Issue

Section

Case report

How to Cite

Association of a point mutation (m.9176T>G) of the MT-ATP6 gene with Leigh syndrome: A case report. (2020). Biomedical Research and Therapy, 7(5), 3739-3743. https://doi.org/10.15419/bmrat.v7i5.601

Similar Articles

1-10 of 290

You may also start an advanced similarity search for this article.