Genes involved in the ‘complement pathway’ which is part of the blood
immune system, also prove to have a wider developmental involvement.
Mutations in key genes in the pathway cause physical disabilities such
as facial deformity, cleft lip and palate, premature fusion of skull
sutures (craniosynostosis), as well as learning disability and deafness.
at the UCL Institute of Child Health discovered that four rare
inherited conditions- Carnevale, Mingarelli, Malpuech and Michels
syndromes - stem from mutations in the same two genes -COLEC11 and
MASP1, both of which encode proteins in the lectin complement pathway.
Writing in Nature Genetics, they show that at least one of the proteins
normally coded by these genes is important for herding neural crest
form the head and face during embryo development, down
the correct path to their final destination. When this procession is
altered, there is a significant effect on the face and head.
Philip Beales who led the study said: “We believe this study could help
us to better understand the causes of more common cleft lip and palate
and craniosynostosis. Yet again similar features in rare diseases prove
to arise frommutated genes disrupting the same pathway.
another example of nature multi-tasking. Proteins involved in the innate
immune system are being used early in embryo development to form the
skull, palate and other body parts.”
Stephen Cox, GOSH-ICH Press Office: 020 7239 3119
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