Functional Analysis in Drosophila of human NEUROBEACHIN, a candidate gene for autism, and its Drosophila homolog rugose.

Id:KUL_3M060521

K.U.Leuven

A novel approach has allowed our research team to delineate several candidate genes for autism. This approach consists of searching for “broken” genes in rare subjects with autism and specific chromosomal anomalies where only one gene is damaged. Three of these genes, Neurobeachin, Amysin and SCAMP5, participate in the same biological pathway(s) in brain cells: regulated secretion. This pathway plays a role in regulating how nerve cells grow and differentiate, and also in controlledcell pruning (apoptosis) which is a normal part of early brain development. Deregulation of nerve cell growth and apoptosis have been demonstrated in the brains of people with autism. We have shown that in cell cultures of endocrine cells, which contain vesicles that are similar to those in neurons, secretion is affected by the candidate genes. All three genes were shown to belong to a small subgroup of proteins that function as negative regulators, i.e. suppressing secretion. This suggests that they are inv

Timeframe:

1 Oct 2006 → 31 Dec 2011

Keywords:

autisme

Discipline codes:

• BIOMEDICAL SCIENCES (B)
  • Medicine (human and vertebrates)

Classifications:

• Ph. D.