Also this week MedZine brings you the latest medical news on various medical specialisms. In this editorial two striking studies are highlighted. Both identifying genetic factors linked to disease and published in Journal of Clinical Investigation. The first identifies two genes linked to an increased risk for eating disorders. The second describes mutations that are associated with early-onset lumbar disc degeneration.
Decreased estrogen-related receptor activity and eating disorder predisposition
Eating disorders such as anorexia nervosa and bulimia nervosa often run in families. However, genetic factors involved have remained elusive. Lutter and colleagues now identified genetic mutations in two separate families affected by eating disorders that were linked to the same transcriptional pathway. Two families with frequent eating disorders were analyzed and two gene mutations, one in each family, were identified. One mutation in the transcription factor estrogen-related receptor α (ERRSA) and the other in gene encoding the transcriptional repressor histone deacetylase 4 (HDAC4). The mutant forms of both ERRSA and HDAC4 resulted in reduced expression of known ERRSA-dependent genes, indicating that individuals with mutations that reduce ESRRA activity have an increased risk of developing eating disorders.
Mutations linked to early-onset lumbar disc degeneration
Lumbar disc degeneration (LDD) is characterized by pain in the lumbar region of the spine as a result of a compromised disc. Chan and colleagues have analyzed the genetics in families with LDD and mapped mutations to the 3' untranslated region of the carbohydrate sulfotransferase 3 (CHST3) gene. This region contains a microRNA binding site. The characterized mutations enhanced microRNA binding, resulting in decreased CHST3 expression. In addition, patients with early-onset LDD had decreased CHST3 mRNA levels in intervertebral discs. According to the researchers, these results indicate that LDD development can be predicted by decreased CHST3 expression.
Sources: Eurekalert, Journal of Clinical Investigation