The researchers hope to someday develop targeted therapies that could help treat people with genetic mutations
that predispose them to obesity.
Mice with the genetic mutation
gained weight even while eating the same amount of food as their normal counterparts; the affected gene, Mrap2, has a human counterpart (MRAP2) and appears to be involved in regulating metabolism and food consumption.
To the group's surprise, the testing found that about two-thirds of the women with PPCM shared a genetic mutation
on chromosome 12.
Based on a negative result, patients can undergo the planned LASIK procedure, while in case of positive results for the genetic mutation
, the person will be advised against undergoing LASIK surgery and advised instead to take protective measures, including minimising exposure to UV light by wearing protective lenses to help delay the progression of GCD symptoms.
Using their model, the researchers were able to confirm that a single genetic mutation
can lead to the thousands of polyps seen in FAP.
The Transylvanian naked neck chicken has developed its defining feature because of a complex genetic mutation
Scientists have discovered that the condition, called fatal familial insomnia, arises from a genetic mutation
that creates prions, the same kind of misshapen proteins that cause scrapie, mad cow disease, kuru, and Creutzfeldt-Jakob disease.
Many cases of human disease can be triggered when a natural or man-made substance in the environment causes a genetic mutation
or a disturbance in cell growth.
PPMI is assessing clinical and imaging data and biological samples of people with a genetic mutation
to identify biomarkers and speed clinical studies.
The study findings showed that almost 50% out of 400 women tested had a genetic mutation
that could be addressed with a targeted therapy.
The findings shed new light on how a genetic mutation
identified nearly 20 years ago causes the disease.
At the rate that genetic mutation
occurs in chloroplasts, it probably wouldn't have produced seven new haplotypes in just 12,000 years, the scenario required if the species had been wiped out in the region during the last ice age.