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Blindness gene discovered

02.08.2018

Scientists from Switzerland, Pakistan and the US have "calculated" the gene responsible for childhood blindness. All the fault - pathogenic mutations in the MARK3 gene. The scientists reported the discovery in an article published in the journal Human Molecular Genetics.

Our genome consists of 20000-25000 active genes, each of which has the potential to cause some kind of disease. To date, 4 genes have been identified that are responsible for genetic abnormalities. What to expect from the remaining 141 genes is not yet known to science. And yet, one secret has recently become less. Scientists from the University of Geneva (Switzerland), in collaboration with scientists from Pakistan and the United States, have investigated a recessive genetic "disorder" that disrupts the normal development of the eye and leads to childhood blindness.

In a new study, geneticists have turned their interest to an unknown disease that prevents the eyes from developing properly and gradually destroys them. "We found that the disorder was passed on to children from relatives. As a result, we assumed that this is a recessive genetic disease," said Stylianos Antonarakis, professor at the Faculty of Medicine at the University of Geneva. For a disorder to fall into this category, it must affect at least two children from the same family (regardless of their gender), and the parents must be healthy.

The research program involved 200 Pakistani families who met these criteria. The families were selected from Pakistan, as in this country more than 50% of marriages are between blood relatives (most often between cousins).

Scientists analyzed the genomes of each member of these blood families and identified pathogenic mutations in a previously unknown gene - MARK3. Violation of this gene is the cause of the disease. Subsequently, geneticists confirmed their results with the help of an experiment on fruit flies. They modified the same gene in flies, and as a result, the insects had undeveloped eyes and developed blindness.

In addition to MARK3, scientists have identified 30 more genes that could potentially be responsible for blindness. The discovery helps to better understand the mechanism of the disease and may provide new opportunities for personalized treatment of eye pathologies.

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