Research Explorer

Project

Unraveling the segregation pattern of mitochondrial DNA mutations using embryos and pluripotent stem cells
Code
01SC2916
Duration
01 March 2016 → 31 August 2019
Funding
Regional and community funding: Special Research Fund
Research disciplines
  • Natural sciences
    • Genetics
  • Medical and health sciences
    • Endocrinology and metabolic diseases
    • Gynaecology and obstetrics
    • Molecular and cell biology
    • Morphological sciences
    • Endocrinology and metabolic diseases
    • Gynaecology and obstetrics
    • Molecular and cell biology
    • Morphological sciences
    • Nursing
    • Endocrinology and metabolic diseases
    • Gynaecology and obstetrics
    • Molecular and cell biology
    • Morphological sciences
Keywords
embryos mitochondrial disorders pluripotent stem cells
 
Project description
 

As there is no cure for mitochondrial (mt) diseases yet, it is highly important to prevent the transmission of mtDNA mutations. For this, we want to determine the mtDNA mutation load of embryos accurately by using next generation sequencing. Moreover, pluripotent stem cells from these patients serve as a unique model to study the mtDNA segregation pattern in detail.