Project

Characterization of novel genetic causes of combined OXPHOS deficiencies

Duration
01 September 2014 → 31 August 2015
Funding
Regional and community funding: Special Research Fund
Research disciplines
  • Natural sciences
    • Genetics
    • Systems biology
  • Social sciences
    • Biological and physiological psychology
    • Cognitive science and intelligent systems
    • Developmental psychology and ageing
  • Medical and health sciences
    • Laboratory medicine
    • Medical systems biology
    • Molecular and cell biology
    • Neurosciences
    • Orthopaedics
    • Pediatrics and neonatology
    • Laboratory medicine
    • Medical systems biology
    • Molecular and cell biology
    • Neurosciences
    • Orthopaedics
    • Pediatrics and neonatology
    • Nursing
    • Laboratory medicine
    • Medical systems biology
    • Molecular and cell biology
    • Neurosciences
    • Orthopaedics
    • Pediatrics and neonatology
Keywords
combined OXPHOS deficiencies nDNA mitochondria
 
Project description

The goal of this project is to discover new genetic causes in patients diagnozed with an OXPHOS deficiency. This will be performed using genetic

analyses in tissues and cells from patients with combined deficiencies involving either complex I+IV or complex I+II. Once new genetic variants have

been detected, experiments will be done to confirm the pathogenic character of the mutation.