25.02.2016

Eye disease gene "may also cause cancer"

Eye disease gene "may also cause cancer"

A mutated gene which causes the rare eye disease Schnyder"s corneal dystrophy may also lay a major role in the development of bladder cancer, according to a team of experts in the US.

Research carried out by Dr Jayne Weiss, professor and chair of ophthalmology at the LSU Health Sciences Center in New Orleans, shows that a protein called TERE1, or UBIAD1, is the culprit.

Previous research had indicated that TERE1 is associated with invasive prostate cancer as well as Schnyder"s corneal dystrophy, an eye disease involving excess cholesterol.

Using this as a basis, the team investigated its role in both lipid metabolism and the progression of invasive bladder cancer.

They attempted to confirm that TERE1 levels are reduced in advanced bladder cancer and that TERE1 inhibits the growth of bladder cancer cells and began by manipulating the proteins thought to control cell stress and tested them in human bladder cancer cells in a mouse model.

The specialists found that TERE1 was reduced in a third of the invasive specimens and that, when added to cells, TERE1 significantly inhibited the development of tumours.

It was also suggested that altering the dosage of TERE1 and another protein implicated in disease associated with triglyceride metabolism, known as TBL2, regulates cholesterol in cells.

Mutations in TERE1 associated with Schnyder"s corneal dystrophy can also interfere with binding to a carrier protein that removes cholesterol from cells, the experts found.

Dr Weiss, who also holds the post of Herbert E Kaufman endowed chair in ophthalmology at LSU Health Sciences Center New Orleans and is director of the LSU Eye Center, said research such as this helps expert to target new treatment or prevention approaches for many seemingly unrelated diseases.

"Discovering a new component of the dynamic cellular cholesterol regulatory network gives us information that can be applied to every disease arising from a defect in it. Besides Schnyder"s corneal dystrophy, this includes many types of cancer," she explained. 

by Martin Burns


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