UCLA researchers identify common molecular mechanism in two skeletal disorders

FINDINGSA rare and as-yet-unnamed skeletal disorder shares a common “signaling pathway” with another rare skeletal disorder called Jansen metaphyseal chondrodysplasia. (A signaling pathway is a group of molecules in a cell that work together to control one or more cell functions.) The findings point to the mechanisms that control both normal and disordered devel opment of the skeleton, and could even lead to a novel target for cancer drugs.  BACKGROUNDSkeletal disorders, or dysplasias — such as brittle bones or very short limbs — can arise from genetic mutations that affect the development of cartilage and bone. The researchers analyzed the genes of two children who are siblings who had a previously uncharacterized disorder that affects bone development as well as neurologica l and immune system development. The investigators wanted to determine whether the disorder shared genetic similarities with Jansen metaphyseal chondrodysplasia, or JMC. Both disorders cause similar changes in the bones. METHODAnalyzing the genetics of the siblings and their family, the team found that a homozygous mutation — an alteration that occurred in the copies of a gene each child inherited from each parent — of a protein called SIK3 was responsible for the siblings’ disorder. The siblings’ cells had a 60 percent reduction in SIK3 levels. But the siblings’ parents and their brother, all of whom are una ffected by the disorder, each only had one copy of the mutation.The researc...
Source: UCLA Newsroom: Health Sciences - Category: Universities & Medical Training Source Type: news