Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  • Emmanuelle Sarzi
  • Marie Seveno
  • Claire Angebault
  • Dan Milea
  • Cecilia Rönnbäck
  • Melanie Quilès
  • Mathias Adrian
  • Joanna Grenier
  • Angélique Caignard
  • Annie Lacroux
  • Christian Lavergne
  • Pascal Reynier
  • Larsen, Michael
  • Christian P Hamel
  • Guy Lenaers
  • Agnès Müller

OPA1 mutations are responsible for autosomal dominant optic atrophy (ADOA), a progressive blinding disease characterized by retinal ganglion cell (RGC) degeneration and large phenotypic variations, the underlying mechanisms of which are poorly understood. OPA1 encodes a mitochondrial protein with essential biological functions, its main roles residing in the control of mitochondrial membrane dynamics as a pro-fusion protein and prevention of apoptosis. Considering recent findings showing the importance of the mitochondrial fusion process and the involvement of OPA1 in controlling steroidogenesis, we tested the hypothesis of deregulated steroid production in retina due to a disease-causing OPA1 mutation and its contribution to the visual phenotypic variations. Using the mouse model carrying the human recurrent OPA1 mutation, we disclosed that Opa1 haploinsufficiency leads to very high circulating levels of steroid precursor pregnenolone in females, causing an early-onset vision loss, abolished by ovariectomy. In addition, steroid production in retina is also increased which, in conjunction with high circulating levels, impairs estrogen receptor expression and mitochondrial respiratory complex IV activity, promoting RGC apoptosis in females. We further demonstrate the involvement of Muller glial cells as increased pregnenolone production in female cells is noxious and compromises their role in supporting RGC survival. In parallel, we analyzed ophthalmological data of a multicentre OPA1 patient cohort and found that women undergo more severe visual loss at adolescence and greater progressive thinning of the retinal nerve fibres than males. Thus, we disclosed a gender-dependent effect on ADOA severity, involving for the first time steroids and Müller glial cells, responsible for RGC degeneration.

OriginalsprogEngelsk
TidsskriftHuman Molecular Genetics
Vol/bind25
Udgave nummer12
Sider (fra-til)2539-2551
Antal sider13
ISSN0964-6906
DOI
StatusUdgivet - 15 jun. 2016

ID: 173290345