Research Explorer

Project

Diagnostic and treatment methods to overcome transmission of mitochondrial DNA mutation disorders
Code
01D05611
Duration
01 October 2011 → 01 May 2015
Funding
Regional and community funding: Special Research Fund
Research disciplines
  • Natural sciences
    • Animal biology
    • Genetics
  • Medical and health sciences
    • Endocrinology and metabolic diseases
    • Gynaecology and obstetrics
    • Endocrinology and metabolic diseases
    • Gynaecology and obstetrics
    • Nursing
    • Endocrinology and metabolic diseases
    • Gynaecology and obstetrics
  • Agricultural and food sciences
    • Veterinary medicine
Keywords
mitochondrial-DNA heteroplasmy nuclear transfer
 
Project description
 

Patient with a mitochondrial DNA mutation are at high risk to transmit this to their progeny. Reliable diagnostic tools are lacking in human. Using a heteroplasmic mitochondrial mouse model, we will verify if the 1st or 2nd polar body, and individual blastomeres can be used to determine the heteroplasmy level. Furthermore, the effect of nuclear transfer techniques to eliminate mitochondrial disorder transmission will be verified.