Premature Aging Resulting From Gene Mutation

Researchers conducted a study published in the Journal of Clinical Investigation which was reported by ScienceDaily to give some new information and data found on a gene called ATRX. Some children are born with ATRX syndrome resulting in them having problems with their brain both cognitively and developmentally. Dr Nathalie Berube and other scientists discovered that mice lacking the ATRX gene had problems in areas of their brain that had an effect on body growth and metabolism. These mice also suffered from shortened lifespan, cataracts, heart enlargement and more symptoms related to aging.

The first author of the paper, Ashley Watson, found that the loss of ATRX caused damage to the telomeres on chromosomes. These problems occur during DNA replication and without the ATRX gene, the telomere is not able to replicate properly. The researchers discovered more information regarding how the ATRX gene causes premature aging. Without this gene, the mice were small and failed to thrive. The scientists looked at the skeleton of the mice and also found low bone mineralization. The defects that take place when a person ages are similar to what occurs when DNA replicates with the lack of the ATRX gene. Damage occurs locally to the forebrain and anterior pituitary causing problems with the thyroid. One of the explanations of the premature aging occurring in children born without the ATRX gene is that since thyroid problems occur, this results in low levels of a hormone in the blood allowing for children to grow. It is called insulin-like growth factor-one (IGf-1).