gene mutations tagged posts

A team at the Centro Nacional de Investigaciones Cardiovasculares (CNIC), working in collaboration with institutes in the U.S., has demonstrated that acquired mutations in the gene encoding the protein p53 contribute to the development of atherosclerotic cardiovascular disease.

Known as the “guardian of the genome,” p53 helps to maintain the integrity of the hereditary material inside cells by regulating multiple cell functions in response to cellular stresses.

Every day, an adult person generates hundreds of thousands of blood cells...

Up to 90% of people with autism suffer from gut problems, but nobody has known why. New research reveals the same gene mutations – found both in the brain and the gut – could be the cause.

The discovery confirms a gut-brain nervous system link in autism, opening a new direction in the search for potential treatments that could ease behavioural issues associated with autism by targeting the gut.

Chief Investigator Associate Professor Elisa Hill-Yardin, RMIT University, said scientists trying to understand autism have long been looking in the brain, but the links with the gut nervous system have only been recently ex...