London, April 3: British scientists have discovered a rare genetic disease, which causes delays in intellectual development and leads to the early onset of cataracts in children.
The disease will likely affect one in 17 children, but it is so new it does not yet have a name, the research team at Portsmouth and Southampton universities have said.
They found that the majority of patients with the disease were also microcephalic, a birth defect where a baby’s head is smaller than expected compared to babies of the same sex and age.
In the study, published in the journal Genome Medicine, the team found that changes in a gene called envelope protein complex 1 (COPB1) are behind this new genetic disease.
Identifying the variant will help clinicians develop targeted interventions and open the door to screening and prenatal diagnosis.
For the study, the team sequenced the DNA of affected patients and their family members, which identified COPB1 as the potential underlying cause of the disease.
Using tadpoles to mimic variants of the human gene, tadpoles with the COPB1 gene modifications had smaller brains than control tadpoles and many of them had cataracts, as did patients. This showed very clearly the link between the gene and the disease.
“In our first experiments to test the link between genetic variation and disease, we found to our surprise that by altering the DNA of tadpoles, four out of five times, we could recreate the disease-related changes observed. in human patients. This will allow us to help our colleagues deliver the faster and more accurate diagnosis that patients and their families desperately need, ”said co-author Matt Guille, professor at the University of Portsmouth. (IANS)