Journal article
Authors list: Angebault, Claire; Guichet, Pierre-Olivier; Talmat-Amar, Yasmina; Charif, Majida; Gerber, Sylvie; Fares-Taie, Lucas; Gueguen, Naig; Halloyn, Francois; Moore, David; Amati-Bonneau, Patrizia; Manes, Gael; Hebrard, Maxime; Bocquet, Beatrice; Quiles, Melanie; Piro-Megy, Camille; Teigell, Marisa; Delettre, Cecile; Rossel, Mireille; Meunier, Isabelle; Preising, Markus; Lorenz, Birgit; Carelli, Valerio; Chinnery, Patrick F.; Yu-Wai-Man, Patrick; Kaplan, Josseline; Roubertie, Agathe; Barakat, Abdelhamid; Bonneau, Dominique; Reynier, Pascal; Rozet, Jean-Michel; Bomont, Pascale; Hamel, Christian P.; Lenaers, Guy
Publication year: 2015
Pages: 754-760
Journal: American Journal of Human Genetics
Volume number: 97
Issue number: 5
ISSN: 0002-9297
eISSN: 1537-6605
Open access status: Green
DOI Link: https://doi.org/10.1016/j.ajhg.2015.09.012
Publisher: Cell Press
Abstract:
Autosomal-recessive optic neuropathies are rare blinding conditions related to retinal ganglion cell (RGC) and optic-nerve degeneration, for which only mutations in TMEM126A and ACO2 are known. In four families with early-onset recessive optic neuropathy, we identified mutations in RTN4IP1, which encodes a mitochondrial ubiquinol oxydo-reductase. RTN4IP1 is a partner of RTN4 (also known as NOGO), and its ortholog Rad8 in C. elegans is involved in UV light response. Analysis of fibroblasts from affected individuals with a RTN4IP1 mutation showed loss of the altered protein, a deficit of mitochondrial respiratory complex I and IV activities, and increased susceptibility to UV light. Silencing of RTN4IP1 altered the number and morphogenesis of mouse RGC dendrites in vitro and the eye size, neuro-retinal development, and swimming behavior in zebrafish in vivo. Altogether, these data point to a pathophysiological mechanism responsible for RGC early degeneration and optic neuropathy and linking RTN4IP1 functions to mitochondrial physiology, response to UV light, and dendrite growth during eye maturation.
Citation Styles
Harvard Citation style: Angebault, C., Guichet, P., Talmat-Amar, Y., Charif, M., Gerber, S., Fares-Taie, L., et al. (2015) Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies, American Journal of Human Genetics, 97(5), pp. 754-760. https://doi.org/10.1016/j.ajhg.2015.09.012
APA Citation style: Angebault, C., Guichet, P., Talmat-Amar, Y., Charif, M., Gerber, S., Fares-Taie, L., Gueguen, N., Halloyn, F., Moore, D., Amati-Bonneau, P., Manes, G., Hebrard, M., Bocquet, B., Quiles, M., Piro-Megy, C., Teigell, M., Delettre, C., Rossel, M., Meunier, I., ...Lenaers, G. (2015). Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies. American Journal of Human Genetics. 97(5), 754-760. https://doi.org/10.1016/j.ajhg.2015.09.012
Keywords
ATROPHY; MITOCHONDRIAL PROTEIN; NOGO; OPA1
