Mitochondrial dysfunction and genetic variations in neuro-ophthalmology diseases

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Background

The mitochondrion plays a pivotal role in cellular energy production, orchestrated by the oxidative phosphorylation (OXPHOS) machinery governed by nuclear genes and the circular double-stranded mitochondrial DNA molecule (mtDNA).

Due to its close association with OXPHOS complexes and ensuing exposure to reactive oxygen species, mtDNA is susceptible to mutations and damage, lacking protective histones and repair mechanisms. Genetic variations within mtDNA and nuclear DNA genes encoding mitochondrial proteins can disrupt energy production, triggering disease onset through the alteration of NAD+/NAD(P)H levels—essential cofactors for metabolic reactions and reactive oxygen species scavenging.

Mutations in mtDNA are prevalent in both paediatric and age-related diseases, particularly those impacting the nervous, ocular system and tissues, such as the retina. The high energy demands of these tissues lead to increased mutational burdens and heightened oxidative stress. Oxidative stress significantly contributes to ocular pathophysiology, with individual genetic susceptibility influenced by various environmental factors.

For instance, steroid responsiveness, whether endogenous (e.g., stress-induced) or pharmacologic, can influence disease risk, while the roles of other factors like smoking and alcohol consumption remain inconclusive and necessitate further exploration. As optic neuropathies likely result from the interplay of multiple genes (in nuclear and mtDNA), environmental factors, and their interactions, further research is essential to understand the processes underlying mitochondrial dysfunction and excessive reactive oxygen species production. This profound comprehension may provide fresh insights into therapeutic strategies and early interventions for patients with ophthalmic diseases.

In this Research Topic, we invite original research, full reviews, or mini-reviews that shed light on the role of genetic variations linked to mitochondrial dysfunction in causing ophthalmic diseases and
related conditions in somatic and germline cells. This topic encompasses, but is not limited to:
• Genetic variations across different ethnicities
• Approaches like gene therapy and genome editing to enhance mitochondrial function
• Gene-gene interactions within nuclear and/or mtDNA genomes
• Gene-environment interactions involving nuclear and/or mtDNA genomes
• Risk estimation based on individual genetic susceptibility

We would like to acknowledge Dr. Valeria Lo Faro (Uppsala University, Sweden) as the Topic Coordinator who has contributed to the proposal for this Research Topic. Dr. Lo Faro's research interests are focused on investigating the genetic factors that underlie glaucoma and complex human diseases.

Keywords: Mitochondrial DNA (mtDNA), Glaucoma, DNA, Genetics, Gene-environment, Retina, Neuro-Ophthalmology Diseases

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