Autosomal Dominant Optic Atrophy (ADOA) is an inherited mitochondrial disorder characterized by progressive degeneration of the optic nerve, leading to visual impairment. Protheragen is dedicated to offering preclinical research services tailored specifically for ADOA, aiming to advance the exploration and development of therapeutic solutions in collaboration with therapeutic development corporation and research institutions.
Introduction to ADOA
Mutations in the OPA1 gene, associated with optic atrophy type 1, lead to autosomal dominant optic atrophy. To date, a total of 13 genes have been identified as being associated with hereditary optic atrophy, namely OPA1, OPA2, OPA3, OPA4, DNM1L, OPA6, TMEM126A, OPA8, ACO2, RTN4IP1, YME1L1, AFG3L2, and SSBP1. The proteins encoded by these genes play a crucial role in regulating mitochondrial structure and function including inner membrane proteins, fission/fusion proteins, and other mitochondria-associated factors that are essential for the survival and functionality of optic nerve cells. This condition is primarily characterized by progressive symmetric painless visual impairment and optic atrophy due to degeneration of retinal ganglion cells and their axons during early childhood.
Fig.1 All 11 OPA1 mutations identified are demonstrated in the schematic diagram of the OPA1 gene and protein. (Han, J., et al., 2022)
Research Progress of ADOA
The research on ADOA has primarily focused on elucidating the functionality of the OPA1 protein and investigating the involvement of mitochondria in optic neurodegenerative disorders. Additionally, scientists are actively engaged in identifying novel disease-causing genes and exploring potential therapeutic interventions.
Novel Diagnostic Methods of ADOA
The primary approach for diagnosing ADOA is molecular genetic testing, with confirmation of the diagnosis achieved through identification of mutations in the OPA1 gene. With advancements in technology, more rapid and precise diagnostic methods such as whole genome sequencing may potentially become accessible.
Novel Therapies of ADOA
There is currently no known cure for autosomal dominant optic atrophy. However, significant progress has recently been made in research efforts to find a remedy. While ADOA is presently considered untreatable, one study demonstrated improved visual acuity and function through the utilization of Idebenone therapy. Idebenone, a synthetic analog of coenzyme Q10, possesses potent antioxidant properties that effectively mitigate cellular damage caused by free radicals. It has exhibited efficacy in individuals with cardiac and mitochondrial conditions.
Our Services
The primary focus of Protheragen, a preclinical contract research organization, lies in the field of mitochondrial diseases. The organization is committed to delivering exceptional research services to therapeutic development corporation and research institutions.
Our Advantages
Protheragen endeavors to become your preferred partner in the realm of autosomal dominant optic atrophy research. We integrate cutting-edge science, technology, and expertise to offer comprehensive support and solutions for your research projects. If you are interested in our services or have any inquiries, please do not hesitate to contact us.
Reference
- Han, J.; et al. (2022). Autosomal dominant optic atrophy caused by six novel pathogenic OPA1 variants and genotype-phenotype correlation analysis. BMC ophthalmology, 22(1), 322.
