Genetic Cause Found for Fetal Movement Disorder
Reported June 04, 2008
(Ivanhoe Newswire) As any pregnant woman knows, babies like to kick and turn while in the womb. However, some babies stay still, which can lead to complications and even death. Now researchers are learning why these babies arent as active.
A mutation on a gene responsible for controlling a portion of the acetylcholine receptor (AChR) appears to be coming into play. Acetylcholine is a neurotransmitter than sends signals from nerves to muscles, essentially enabling movement.
The investigators found the gene by studying a family in Oman with four children who were suffering from a condition called fetal akinesia deformation sequence (FADS), which arises from impaired fetal movement. The disease is characterized by growth retardation, abnormal accumulation of fluid in the organs, incomplete development of the lungs and joint problems.
The researchers then studied DNA from 75 other FADS patients, finding other components of the acetylcholine receptor were involved too.
The finding holds out hope for children who are affected, because acetylcholine esterase inhibitors already exist to treat other conditions. One of the children in the study who received the inhibitors improved significantly, and even began to walk.
This underlines the obvious therapeutic relevance of early clinical and genetic consideration of AChR pathway mutations, study author Dr. Katrin Hoffmann, from Charité University Hospital in Berlin, Germany, was quoted as saying. Doctors in pre and neonatal care should be aware of the importance of the AChR pathway in this group of diseases. Clinical examination and genetic testing can confirm the diagnosis and help to identify appropriate treatment.
SOURCE: Presented at the European Society of Human Genetics meeting, May 31, 2008