14 DAY TRIAL // A team of experts from the United States managed to identify a number of genes that are apparently involved in the development of the eating disorder known as anorexia nervosa. The scientists identified both common and rare mutations that underlie the development of this disease.
The investigation was basically the largest genetic study ever conducted in this field. The efforts were led by experts at the Children’s Hospital of Philadelphia (CHP), who say that this research will open up new avenues of research for developing novel therapies against this condition.
Some of the most active genes involved in anorexia nervosa were also found to have a significant influence in regulating processes such as neuronal signaling and the shaping of synapses between nerve cells in the human brain.
“This is the first genome-wide association study on a large anorexia cohort, as well as the first study of copy number variations in the disorder,” explains scientist Hakon Hakonarson, MD, PhD, a researcher on the study.
The expert holds an appointment as the director of the CHP Center for Applied Genomics, and is also the leader of the new research. Details of the work appear in the November 16 online issue of the journal Molecular Psychiatry.
Thus far, “despite various genetic studies that identified a handful of candidate genes associated with AN, the genetic architecture underlying susceptibility to AN has been largely unknown,” the researcher adds, quoted by Science Blog.
According to official statistics from the United States, anorexia nervosa affects 9 in 1,000 women. The most common symptoms include refusal to eat, significant weight loss, distorted images of one's body, and an irrational fear of gaining weight.
Most of the times, the onset of AN can be tracked to patients' teen years, scientists say. Even if the condition has been around for centuries, healthcare experts still have no way of treating it successfully. Psychiatrists say that the disease has the highest mortality rate of all psychiatric disorders.
This research focused on discovering single-nucleotide polymorphisms (SNP), or common gene variants, in the genomes of 1,003 AN patients (average age 27), when compared to data obtained from 3,733 pediatric test participants, with an average age of 13.
“We confirmed results of previous studies of anorexia nervosa: SNP in the gene OPRD1 and near the gene HTR1D confer risk for the disease,” Hakonarson explains.
“We did not detect other obvious candidate genes, but we did generate a list of other genes that we are analyzing in follow-up studies,” he goes on to say.
The new study was made possible by funding secured from the CHP, the Price Foundation, the Klarman Family Foundation, and the Scripps Translational Science Institute, La Jolla, California.