Molecular analysis of dominant autosomal optic atrophy

Mitochondria constitute the metabolic center of the cell. In contrast to other organelles, mitochondria cannot be generated de novo and need to undergo fission and fusion. One protein known to catalyze the fusion process is OPA1 which is located at the inner membrane of mitochondria. Patients suffering from autosomal dominant optic atrophy (ADOA) harbor mutations in the gene encoding OPA1. These mutations result in haploinsufficiency and cause impaired vision due to defects that affect retinal ganglion cells and the optic nerve. All mutations that have been identified in patients result in the loss of function or RNA-mediated decay of OPA1, however, it remains incompletely understood why/how this mutation leads to ADOA.In order to better understand how mutant OPA proteins lead to defective neural ganglion differentiation, we will generate induced pluripotent stem cells and study the effect of OPA1 mutations during iPSC to somatic cell differentiation.

Prosjektbeskrivelse med vedlegg


  • Ja



REK - Ja 1 fil

Tidspunkt for anonymisering og sletting av dataene

  • Anonymisering: januar 2019
  • Sletting: desember 2028


Judith Staerk

Ansvarlig enhet

Norsk Senter for Molekylærmedisin



  • Forskerprosjekt

Helsefaglig forskning

  • Ja


  • Ikke besvart


  • Start: januar 2019
  • Slutt: desember 2028
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