A recent study published in the Journal of Clinical Investigation revealed that a novel genetic mutation might cause severe cases of childhood glaucoma.

Using cutting-edge genome-sequencing technology, the researchers found a mutation in the thrombospondin-1 (THBS1) gene in three ethnically and geographically varied families with a history of childhood glaucoma. The scientists then used animal models to confirm their findings.

Scientists identified 127 genes linked to glaucoma using a dataset of over 34,000 persons with the disease. Firstly they examined exome sequences from an American family of European descent and discovered a striking and novel variant in thrombospondin-1, a well-known protein in the body involved in several crucial biological processes, including developing new tissues and vessels (angiogenesis). The fact that the mutated amino acid was evolutionarily conserved suggests that it is essential for protein function. This mutant gene was not found in larger population genetic databases or individuals without a history of childhood glaucoma.

Further research revealed two families with comparable mutations at the same amino acid. The researchers worked together to create mouse models with comparable THBS1 mutations to test this theory further, and they discovered that the mice similarly exhibited glaucoma-like symptoms.

The findings demonstrated that the mutation led to an accumulation of abnormal thrombospondin proteins in the intraocular drainage structures of the eye that regulate intraocular pressure, which in turn caused a buildup of pressure that injured the optic nerve and resulted in the loss of retinal ganglion cells, resulting in vision loss.

Researchers discovered the disease mechanism responsible for this type of childhood glaucoma for the first time. The discoveries might result in enhanced glaucoma screening for kids and earlier, more focused treatments to shield kids with the mutation from losing their vision.

(Source: https://theprint.in/health/new-genetic-mutation-behind-childhood-glaucoma-identified/1245084/)