A research group led by Professor Kei Minami of the Life Resources Research and Support Center of Kumamoto University conducted an age-related analysis using model mice for down disease and hypercholesterolemia, and found that the down disease-related gene DSCR-1 abnormally invaded the cornea. And it was clarified that it protects the blindness and corneal opacity that accompanies it.

 Down's syndrome has become longer-lived due to advances in medical care, but problems such as early Alzheimer's disease, amblyopia, and muscle weakness have also emerged during adulthood with Down's syndrome.On the other hand, it has been reported that blood vessels in adulthood with Down's disease are resistant to aging conditions and do not cause solid cancers other than blood cancer, arteriosclerosis, hypertension, and Kawasaki disease of systemic vasculitis.However, the detailed candidate genes and mechanisms responsible for this were unknown.

 Down's syndrome develops when chromosome 21 usually has three instead of two.This time, high-expression mice in which the Down's syndrome-related gene DSCR-2 located on chromosome 3 strongly exerted its function and deficient mice in which the function was lost were crossed with a model mouse for hypercholesterolemia to affect the effects of aging. Analyzed.

 As a result, it was found that stable functioning of the Down's syndrome-related gene DSCR-1 suppresses the oxidation of bad cholesterol (LDL) and suppresses age-related corneal opacity.On the other hand, it was found that in the absence of DSCR-1, oxidation in LDL is enhanced, and corneal inflammation and pathological angiogenesis occur, resulting in exacerbation of corneal opacity.It has been reported that DSCR-1 has a function to prevent cancer malignant transformation, but by precisely controlling the expression of DSCR-1 in blood vessels, angiopathy (arteriosclerosis / hypertension) The possibility of protecting a wide range of underlying diseases such as has increased.

 In the future, it is expected that DSCR-1 will be highlighted not only as a gene related to Down's syndrome but also as a gene related to the treatment of a wide range of vascular diseases such as arteriosclerosis and hypertension.

Paper information:[Arteriosclerosis, Thrombosis, and Vascular Biology] Loss of Down Syndrome Critical Region-1 Mediated-Hypercholesterolemia Accelerates Corneal Opacity Via Pathological Neovessel Formation

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