Scientists have recently discovered a new genetic disease that delays brain development and early onset of cataract in children.
Most of the affected children had also microcephaly, a medical condition in which the brain size is smaller than normal.
A team of researchers at University of Portsmouth and Southampton has identified the mutational variants in the gene called “coat protein complex 1” (COPB1) as causing factor for this genetic disease.
The team sequenced the genome of affected children and their family members. They identified the COPB1 gene as the potential underlying cause of the disease. To confirm the effect of COPB1 gene, the researchers used tadpoles to mimic the mutational COPB1 protein. The results showed that the tadpoles with COPB1 mutational variant has smaller brain as compared to controls. They also had cataract as observed in affected children.
This showed the link between the gene and disease very clearly.
Co-author Diana Baralle, Professor of Genomic medicine and a clinical geneticist at the University of Southampton, said: “Next generation sequencing is transforming our ability to make new diagnoses and discover new causes for rare disorders. This story started with sisters I saw in clinic without a known underlying cause for their signs and symptoms. Looking closely at their genes, along with further functional molecular work and xenopus studies, we saw that this was a new previously undescribed syndrome. A diagnosis is so important to the family.”
It is estimated that 1 in 17 people with suffer from genetic diseases but identifying the causative gene is still a huge challenge. Using tadpoles for the first time, instead of mice has shown good results and results can be visible in as many as three days.
This genetic disease is yet to be named and it is need to see what kind of treatment can help benefit these children.
The findings are published in the journal Genome Medicine
Adapted from : University of Portsmouth- News
William L. Macken, Annie Godwin, Gabrielle Wheway, Karen Stals, Liliya Nazlamova, Sian Ellard, Ahmed Alfares, Taghrid Aloraini, Lamia AlSubaie, Majid Alfadhel, Sulaiman Alajaji, Htoo A. Wai, Jay Self, Andrew G. L. Douglas, Alexander P. Kao, Matthew Guille, Diana Baralle. Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly. Genome Medicine, 2021; 13 (1) DOI: 10.1186/s13073-021-00850-w