Scientists at the University of Aberdeen have made a discovery which provides new insights into the genetic cause of hydrocephalus - too much fluid in the brain.
Birth defects of the brain affect one in 300 newborn babies and seven in 1000 pregnancies across the UK. Among these defects hydrocephalus and spina bifida are the most common ones, and they are known as neural tube defects.
Supported by the University of Aberdeen, Medical Research Scotland, the Chief Scientists’ Office and BDF Newlife, the researchers have discovered that too much of a cell surface protein in the brain of mice can cause hydrocephalus.
During normal development, brain and spinal cord cells must balance cell division, cell death and new nerve cell formation. Newly formed nerve cells move to precise locations, make appropriate connections and talk to each other using languages that include secreted small proteins such as “neuropeptides”. One of these neuropeptides is called PACAP, which binds and activates a cell membrane protein called the PAC1 receptor.
In findings published today (July 3, 2006) in the Journal of Clinical Investigation, they report details of how overproduction of the PAC1 receptor disrupts cell division and cell death, changes brain structures and causes hydrocephalus.
Dr Shen, a Lecturer at the University of Aberdeen, who worked closely with University Research Fellow Dr Bing Lang and other University colleagues, said: “Although prenatal screening and ultrasound scanning can effectively detect neural tube defects, little is available for screening or prevention of hydrocephalus. Now we shall examine whether relevant genes are altered in human patients”.
Professor Colin McCaig, Head of the School of Medical Sciences at the University of Aberdeen, added: “Drs Lang and Shen’s work is of fundamental importance both for our understanding of normal brain development and to understand how this goes wrong. We hope these finding could eventually pave the way for the development of new screening techniques and preventative treatments in the future.“