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Mitochondrial Dysfunction Implicated in Glaucoma

Researchers from India and the UK found pathogenic mitochondrial DNA mutations in half of the primary open-angle glaucoma patients they sequenced, as they report in Genetics in Medicine.

The University of Liverpool's Colin Willoughby and his colleagues sequenced the whole mitochondrial genomes of 32 patients with primary open-angle glaucoma, half from India and half from Ireland. Sixteen patients, they found, had 22 mitochondrial DNA mutations, including seven novel mutations and eight that had previously been linked to disease. Additionally, eight of the 22 mutations affected complex I mitochondrial genes

This suggests to Willoughby and his team that mitochondrial dysfunction and complex I are involved in the development of primary open-angle glaucoma.

"Understanding the genetic basis of glaucoma can direct care by helping to determine the patient's clinical risk of disease progression and visual loss," he says in a statement. "Increasing evidence suggests that mitochondrial dysfunction results in glaucoma and drugs that target mitochondria may emerge as future therapeutic interventions."