Understanding more about the genetics underlying glaucoma, where increased pressure within the eye can lead to irreversible blindness, could lead to personalised medicine for different forms of the disease. Researchers at the University of Liverpool, in the UK, have used data analytics and genome sequencing to find out more about the mitochondrial DNA mutations and their impact in this potentially blinding eye disease.
Glaucoma affects over 60 million people worldwide, and as the global population increases, this could grow to almost 80 million by 2020. A number of studies have linked changes in the mitochondria with glaucoma, and so targeting these cellular powerhouses could lead to better-targeted treatments.
To discover more about the links between dysfunctional mitochondria and glaucoma, researchers used massively parallel sequencing techniques to sequence the entire mitochondrial genome in 32 patients with high-pressure primary open-angle glaucoma, the most common form of the disease.
Colin Willoughby, from the University’s Institute of Ageing and Chronic Disease, explains: “Understanding the genetic basis of glaucoma can direct care by helping to determine the patient’s clinical risk of disease progression and visual loss.”
While the impact that mitochondrial gene change has on disease progression has previously been difficult to track, as cells in the human body can contain mixtures of healthy and mutated mitochondrial genes, the University of Liverpool’s technologies and analysis have shown that half of the people with glaucoma carried 22 mitochondrial DNA mutations. These included seven new mutations and eight known disease-associated sequence variants.
“Our research… has demonstrated that massively parallel sequencing is a cost-effective approach to detect a wide spectrum of mitochondrial mutations and will improve our ability to understand glaucoma, identify patients at risk of the disease or visual loss and support the development of new treatments,” says Willoughby.
Further studies on larger glaucoma numbers of patients will be needed to establish the link between genetic defects in the mitochondrial genome and glaucoma development.
Techniques like massive parallel sequencing generate vast amounts of genetic data. While GenoKey was not involved in the project, its big data analysis technologies can mine huge data sets like these in order to remove false positives and negatives. This allows researchers to find and focus on the patterns in the data, leading to greater understanding of basic biology and application of personalised medicine.