Scientists Explore Development of Autoimmunity in Patients With Common Variable Immune Deficiency

A genetic disease associated with enhanced susceptibility to infection, autoimmunity, and decreased antibody production is common variable immune deficiency (CVID). Mutations in the tumor necrosis factor receptor superfamily member TACI, are associated with CVID and autoimmunity development. Interestingly, autoimmunity develops in CVID patients with only one mutated copy of TACI, and CVID patients with two mutated TACI alleles do not develop autoimmunity.

In this issue of the Journal of Clinical Investigation, Eric Meffre and colleagues at Yale University evaluated B cell activation and tolerance development in healthy individuals and CVID patients with one or two mutated copies of TACI. The authors found that CVID patients with a single altered TACI allele maintained some residual B cell responsiveness that promoted development of autoantibodies, whereas individuals with 2 mutated copies of TACI have complete impairment of B cell responses, which likely prevents autoimmunity.

Significant role of genetics in drug abuse, Norwegian study
A Norwegian study has discovered a connection between genetic factors and drug abuse saying that genetic tendencies play a significant role in the use of drugs.

In the companion commentary, Antonia La Cava of the University of California Los Angeles suggests that targeting residual B cell activity in CVID patients that are heterozygous for TACI mutations may provide clinical relief.

Source-Eurekalert

Personalized Genetics: Unraveling the Secret Code to Good Health.
A path breaking research by American scientists in the area of personalized genetics will soon enable people with the esoteric knowledge of their distinct biological make-up

Optogenetics Shows Promise in Treatment of Obsessive-compulsive Disorders
Researchers managed to re-establish normal behaviour in mice by applying light stimulation to highly specific neurons in the brain, that had beforehand presented pathological repetitive.

Researchers Make Progress in Linking Some Forms of Epilepsy to Genetics
Certain patients with a rare type of epilepsy called epilepsy aphasia have mutations in the same gene.