The Role of STMP1 in Susceptibility to Paget’s Disease of Bone 

Investigators: Mr Navnit Makaram, Dr Sachin Wani, Prof Robert Hill and Prof Stuart Ralston from the Centre for Genomic & Experimental Medicine MRC Institute of Genetics & Molecular Medicine, at the University of Edinburgh.

Mr Navnit Makaram explains new genetic research funded by the Paget’s Association -

"Genetic factors play a key role in Paget’s Disease of Bone and previous studies have identified a region on human chromosome 7q33 which is strongly associated with the risk of developing the condition. The region on 7q33 contains four known genes which are called NUP205, STMP1, CNOT4, and SLC13A4. Up until now, it was thought that the gene at this location most likely to cause Paget’s disease was NUP205 because the strongest signal of association was with a variant in the NUP205 gene. However, it has recently become apparent that another gene, situated close to NUP205, which is called STMP1, may instead be responsible for predisposing people to Paget’s. There are two reasons for this. First, a previous research group has shown that the genetic variant that predisposes to the condition is associated with high levels of STMP1. Secondly, initial research, that I have carried out, has identified variations in the STMP1 gene that is likely to play a key role in gene regulation.  

Although this all suggests that STMP1 is the culprit, the effects of STMP1 on bone metabolism hasn’t been previously studied. The aim of this study will be to investigate the effects that STMP1 has on bone-resorbing cells (osteoclasts) and bone‑forming cells (osteoblasts) since the activity of both cell types is increased in Paget’s disease. We will also determine if levels of STMP1 are increased in osteoclasts cultured from patients who have Paget’s as compared with unaffected people.

If STMP1 is found to upregulate the activity of bone‑resorbing and bone-forming cells, it could emerge as a new target for the design of drugs to prevent and treat Paget’s disease as well as other bone diseases."

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