Italian researchers have cracked the genetic code responsible for a life-threatening inherited disorder.
A team from the National Research Council (CNR) in Naples have identified all the pathological variations of the Nemo gene, researcher Matilde Valeria Ursini told the journal Human Mutation.
Nemo causes a congenital condition called Incontinentia Pigmenti which leads to epilepsy, mental retardation and skin blotching in women and is fatal in men.
The CNR's Adriano Buzzati Traverso Genetics and Biophysics Institute in the southern Italian city worked for two years with 770 people from all over the world, Ursini said.
Now they have a ''full picture'' of how Nemo works, she said.
''Nemo might be compared to a switch which turns itself off and blocks the functioning of other molecules that regulate cells involved in the immune system, the control of cancer and ageing.''
''It's like a domino effect,'' she said.
For the moment the Naples study holds out ''real hope'' of finding targeted treatment for Incontinentia Pigmenti, Ursini said.
But it could also pave the way for new treatments of the array of conditions in which Nemo is implicated, she said.
