A solitary hereditary transformation is the reason for “port wine” skin pigmentation, as well as an unusual neurological condition in which skin colouring is a distinctive element, analysts have found out.
Transformation occurs after development – it is absent in sperm or eggs – and it is precisely then that it could determine whether an infant has only skin pigmentation or the real neurological problem of Sturge Weber disorder, the experts say. People with this problem have port skin pigmentation (pink to purple patches) that normally appear on the face, and can also suffer seizures, loss of movement, vision problems and learning difficulties.
Finding the hereditary cause of the Sturge Weber disorder and port wine pigmentation is the first stage in developing new drugs for these conditions, analysts say.
“You have to understand what you’re trying to fix,” said study specialist Jonathan Pevsner, head of bioinformatics at the Kennedy Krieger Institute, a Baltimore-based association that addresses problems in youth education.
While it was suspected that the Sturge Weber condition was caused by a post-event change rather than an acquired transformation, this study is the first to substantiate this speculation.
It will be a relief for the guardians to realise that they have not given their child the condition, said Karen Ball, author and director of the Sturge Weber Foundation and mother of a child with Sturge Weber disorder.
“[It is] going to bring extraordinary comfort to individuals,” Ball said.
Understanding the reason
People with Sturge Weber condition have abnormal veins in the skin, cerebrum and eyes that cause the manifestations of the problem. At the time when skin cells are affected, the result is port wine pigmentation.
About 1 in 20,000 infants are born with Sturge Weber disorder, while port wine skin pigmentation is more normal and affects about 1,000,000 people in the US. [See What are moles?]
At the time Ball gave birth to her girl with Sturge Weber condition in 1986, she was basically unable to discover any data on it. In 1987 she founded the Sturge Weber Foundation to promote research into the condition.
Recently, scientists had the innovation to investigate the hereditary cause of the Sturge Weber condition.
In the new study, analysts sequenced the entire genome of three individuals with Sturge Weber condition and studied the characteristics of typical and unusual cells. They found a lonely place where the genomes contrasted, in a quality called GNAQ.
In a larger report, the specialists found a similar transformation in 23 of 26 patients with Sturge Weber disorder and 12 of 13 individuals with port wine stains, but not in one of six healthy individuals who tried it and who had neither condition.
The Sturge Weber disorder enabled the Sturge Weber Foundation to provide funding and a large number of the tissue tests used in the study.
At present, there is no remedy for either Sturge-Weber condition or port wine stains. Treatment for Sturge Weber disease includes treatment for its side effects, such as prescriptions for seizures and medical procedures for treating glaucoma and tissue disorders.
Specialists may try to remove or eliminate port wine stains with laser drugs, but they recur regularly.
Since analysts know the hereditary cause of the disease, they can start research into drugs that affect the marker pathways that are associated with quality. It is conceivable that such drugs could reverse the movement of the Sturge Weber condition, said Dr Anne Comi, Director of the Hunter Nelson Sturge Weber Centre at the Kennedy Krieger Institute.
A transformation at the GNAQ is also associated with uveal melanoma, a type of melanoma that occurs in the eye. Therefore, GNAQ and the pathways it affects have just been studied in detail.
“This is useful for us because we can make rapid progress to understand the basic research,” said Pevsner, explaining how the transformation causes the Sturge weaver disorder and port wine stains.
Pass it on: The hereditary cause of the Sturge Weaver disorder and port wine stains has been found.
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