Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

A perspective on accelerated ageing caused by genetic deficiency of the metabolic protein, OPA1

Erchova, Irina, Sun, Shanshan and Votruba, Marcela ORCID: 2021. A perspective on accelerated ageing caused by genetic deficiency of the metabolic protein, OPA1. Frontiers in Neurology 12 , 641259. 10.3389/fneur.2021.641259

[thumbnail of fneur-12-641259.pdf]
PDF - Published Version
Available under License Creative Commons Attribution.

Download (896kB) | Preview


Autosomal Dominant Optic Atrophy (ADOA) is an ophthalmological condition associated primarily with mutations in the OPA1 gene. It has variable onset, sometimes juvenile, but in other patients, the disease does not manifest until adult middle age despite the presence of a pathological mutation. Thus, individuals carrying mutations are considered healthy before the onset of clinical symptoms. Our research, nonetheless, indicates that on the cellular level pathology is evident from birth and mutant cells are different from controls. We argue that the adaptation and early recruitment of cytoprotective responses allows normal development and functioning but leads to an exhaustion of cellular reserves, leading to premature cellular aging, especially in neurons and skeletal muscle cells. The appearance of clinical symptoms, thus, indicates the overwhelming of natural cellular defenses and break-down of native protective mechanisms.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Optometry and Vision Sciences
Publisher: Frontiers
ISSN: 1664-2295
Date of First Compliant Deposit: 31 March 2021
Date of Acceptance: 16 March 2021
Last Modified: 27 Mar 2024 07:34

Citation Data

Cited 1 time in Scopus. View in Scopus. Powered By Scopus® Data

Actions (repository staff only)

Edit Item Edit Item


Downloads per month over past year

View more statistics