Genetic discovery linked to rare eye disease

ScienceDaily | 9/11/2019 | Staff
hey13 (Posted by) Level 4
Macular telangiectasia type 2 (MacTel) affects about one in 5,000 people, causing a gradual loss of central vision, typically after age 40. As part of an international research effort directed by the Lowy Medical Research Institute (LMRI), Bernstein has spent 15 years working with MacTel patients, sifting through family genetic histories.

Among 250 patients enrolled in the Utah Center for MacTel Genetics, part of an LMRI network of more than 30 centers around the world, a Utah father and son gave Bernstein and LMRI researchers a breakthrough clue. Both had MacTel, along with a rare neurological condition called hereditary sensory neuropathy type 1 (HSAN1). HSAN1 damages the peripheral nerves, typically producing tingling, weakness, and a reduced ability to feel pain and sense hot and cold in the legs and feet. Some patients do not lose sensation but instead feel shooting pains.

Research - New - England - Journal - Medicine

Research published in The New England Journal of Medicine (NEJM) on September 11, 2019, "Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy," confirms two of the genetic variants that cause HSAN1 also cause MacTel.

"We believe this will be the first of many genes linked to MacTel," said Bernstein, one of three senior authors on the NEJM paper and a retinal specialist who directs clinical research at Moran. "This discovery gives patients hope for new treatments, and our research has important implications for other retinal eye diseases."

HSAN1 - Mutations - SPT - Genes - Accumulation

HSAN1 is associated with rare coding mutations in SPT genes that lead to accumulation of toxic biomolecules in the body called deoxysphingolipids (deoxySLs). Presumably, these same toxic molecules cause damage to the macula, or center of the retina, in patients with HSAN1 and MacTel.

Working with LMRI and the Deater Foundation, a Pennsylvania-based non-profit dedicated to HSAN1 research, Bernstein and fellow clinicians on LMRI's MacTel Project conducted comprehensive eye exams on a group of 10...
(Excerpt) Read more at: ScienceDaily
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