(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
aren’t 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
