It may now be possible to ascertain the severity of Batten Disease,by expressing human gene mutations in yeast cells, according to researchers at the University College London.
The researchers highlighted the fact that Batten disease, which appears in children between ages 4 and 7, is caused by mutations in a gene called CLN3.
Children with this disorder suffer vision loss and exhibit learning difficulties and behavioural changes. This may be followed by the appearance of seizures, a devastating loss of mental and physical function, and eventually death before young adulthood.
Writing about their study in the journal Disease Models and Mechanisms (DMM), the researchers revealed that they created a variety of mutations based on CLN3 defects identified in Batten disease patients, and studied their effects in a fission yeast protein highly similar to the gene.
The researchers found that human mutations that caused a severe Batten disease progression likewise caused severe cell abnormalities in the yeast.
Similarly, they added, mutations found in mild cases of Batten disease resulted in less severe yeast cell changes.
Based on their observations, the researchers came to the conclusion that their yeast model can not only help scientists understand the mechanism underlying Batten disease, but also be useful in investigating therapeutic compounds to treat this disorder and related illnesses.