Chemicals which could lead to new drugs for genetic disorders apparently discovered

UCLA scientists seem to have identified two chemicals which supposedly convince our cells to ignore premature signals in order to stop producing significant proteins.

Supposedly, the genetic disorders are caused by nonsense mutations. For instance, these nonsense mutations could perhaps affect nearly one in five patients with most genetic diseases.

Also, it may affect hundreds of thousands of people suffering from incurable diseases. Since, nonsense mutations could lead to cancer, such drugs may also prove beneficial in cancer treatment.

For the purpose of the study, the UCLA Molecular Shared Screening Resource center of the campus’s California NanoSystems Institute from the past four years seems to have screened approximately 35,000 chemicals in order to look for those which ignore premature stop signals.

“When DNA changes, such as nonsense mutations, occur in the middle rather than the end of a protein-producing signal, they act like a stop sign that tells the cell to prematurely interrupt protein synthesis. These nonsense mutations cause the loss of vital proteins, which can lead to deadly genetic disorders,” says Dr. Richard Gatti, professor of pathology and laboratory medicine and of human genetics at the David Geffen School of Medicine at UCLA.

Gatti’s lab is known to be specializing in studying ataxia-telangiectasia (A-T). A-T is a progressive neurological disease which appears to attack young children, often killing them by their late teens or early 20s.

Lead author of the study, Liutao Du, a postgraduate fellow in the UCLA Department of Pathology and Laboratory Medicine is believed to have developed the screening technology in Gatti’s laboratory.

Du further stated that, “Of the dozens of active chemicals we discovered, only two were linked to the appearance and function of ATM, the protein missing from the cells of children with A-T. These two chemicals also induced the production of dystrophin, a protein that is missing in the cells of mice with a nonsense mutation in the muscular dystrophy gene.”

The findings of the study may perhaps lead to novel medications for genetic diseases, such as cancer and muscular dystrophy. Apparently, they are sparked by missing proteins.

The UCLA team anticipates that their discovery may possibly assist pharmaceutical companies in creating drugs which correct genetic disorders.

The findings of the study have been published in the Journal of Experimental Medicine.