{"id":6445,"date":"2010-05-21T14:27:42","date_gmt":"2010-05-21T18:27:42","guid":{"rendered":"http:\/\/www.bumc.bu.edu\/busm-news\/?p=767"},"modified":"2010-05-21T14:27:42","modified_gmt":"2010-05-21T18:27:42","slug":"study-finds-alzheimers-disease-link-in-eyes-of-children-with-down-syndrome-findings-may-lead-to-eye-tests-for-brain-disease-in-alzheimers-and-down-syndrome","status":"publish","type":"post","link":"https:\/\/www.bumc.bu.edu\/camed\/2010\/05\/21\/study-finds-alzheimers-disease-link-in-eyes-of-children-with-down-syndrome-findings-may-lead-to-eye-tests-for-brain-disease-in-alzheimers-and-down-syndrome\/","title":{"rendered":"Study Finds Alzheimer\u2019s Disease Link in Eyes of Children with Down Syndrome: Findings May Lead to Eye Tests for Brain Disease in Alzheimer\u2019s and Down Syndrome"},"content":{"rendered":"

A team of researchers has discovered that the protein that forms plaques in the brain in Alzheimer\u2019s disease also accumulates in the eyes of people with Down syndrome. The new findings in Down syndrome show that the toxic protein, known as amyloid-\u03b2, that causes Alzheimer\u2019s pathology in the brain also leads to distinctive cataracts in the eyes. The discovery is leading the researchers to develop an innovative eye test for early detection of Alzheimer\u2019s pathology in both disorders.<\/p>\n

\"Lee
Lee E. Goldstein (Photo courtesy of Lightchaser Photography)<\/figcaption><\/figure>\n

The research, led by Lee E. Goldstein, M.D., Ph.D., associate professor at Boston University School of Medicine and the Boston University Alzheimer\u2019s Disease Center, and Juliet A. Moncaster, Ph.D., associate director of the Molecular Aging & Development Laboratory, also at Boston University, was presented at the annual meeting of the Association for Research in Vision and Ophthalmology in Fort Lauderdale, Florida and reported in the May 20 issue of PLoS One. The research included investigators at the Brigham & Women\u2019s Hospital; Massachusetts Eye and Ear Infirmary; Massachusetts General Hospital; Harvard Medical School; Rush University Medical Center; Children\u2019s Hospital Boston, and the University of Washington, Seattle.<\/p>\n

“People with Down syndrome develop symptoms of Alzheimer’s-type dementia often by the age of 30,\u201d said Goldstein, senior corresponding author on the PLoS One article. \u201cThis is because they have an extra copy of a key Alzheimer\u2019s gene that leads to increased amyloid-\u03b2 accumulation in the brain. We discovered that this same protein starts to accumulate very early in the lens of the eye, even in children, \u201d explained Goldstein.<\/p>\n

\u201cThe lens provides a window to the brain,” said Moncaster, co-lead author of the study. \u201cThe lens can\u2019t clear protein deposits the way the brain does. Our findings show that the same amyloid-\u03b2 protein that aggregates in the brain also accumulates in the lens and leads to these unusual cataracts in Down syndrome.\u201d<\/p>\n

“The results are striking,\u201d added David G. Hunter, M.D., Ph.D., Ophthalmologist-in-Chief at Children\u2019s Hospital Boston and Vice Chairman of the Department of Ophthalmology at Harvard Medical School. \u201cWe have known that these cataracts are prevalent in people with Down syndrome and are sometimes seen at birth, but we never knew how they were related to the disorder\u2014now we know,\u201d said Hunter. \u201cThese distinctive cataracts appear only in people with advanced Alzheimer\u2019s disease and much earlier in Down syndrome.\u201d<\/p>\n

According to the National Down Syndrome Society and the National Institute of Child Health & Development, Down syndrome is the most common chromosomal disorder and the leading genetic cause of intellectual disability. In the US, one of every 800 newborns and more than 400,000 people have Down syndrome. Although the disease is incurable, life expectancy for people living with Down syndrome has increased dramatically in recent decades \u2014 from 25 in 1983 to 60 today.<\/p>\n

\u201cWe are developing an eye scanner to measure amyloid-\u03b2 in the lens,\u201d said Goldstein. \u201cThis approach may provide a way for early detection and monitoring of related pathology in the brain. Effective treatments for the brain disease in Down syndrome and Alzheimer\u2019s disease are on the horizon, and early detection is the key for successful intervention,\u201d he said. \u201cThe path to effective treatment is what drives our research.\u201d<\/p>\n

Lead co-authors on the PLoS One publication are Juliet Moncaster (Boston University School of Medicine), Roberto Pineda (Massachusetts Eye and Ear Infirmary, Harvard Medical School), and Robert Moir (Massachusetts General Hospital, Harvard Medical School). Co-authors of the study are Suqian Lu, Mark Burton, Joy Ghosh and Anca Mocofanescu and Rebecca Folkerth (Brigham & Women\u2019s Hospital, Harvard Medical School), Maria Ericsson (Harvard Medical School), Stephanie Soscia and Rudolph Tanzi (Massachusetts General Hospital, Harvard Medical School), Richard Robb and David Hunter (Children\u2019s Hospital Boston, Harvard Medical School), Jerome Kuszak (Rush University Medical Center), and John Clark (University of Washington, Seattle). The corresponding author of the study is Lee Goldstein (Boston University School of Medicine and Boston University Alzheimer\u2019s Disease Center).<\/p>\n

The five-year research effort was supported by the National Institutes of Health (National Institute of General Medical Sciences, National Institute on Aging), American Federation for Aging Research, Alzheimer’s Association, American Health Assistance Foundation, Cure Alzheimer’s Fund, National Disease Registry Interchange, Sun Health Research Institute, Florida Lion\u2019s Eye Bank, and an anonymous foundation. The investigators disclosed that at the time of the study Drs. Tanzi and Goldstein were scientific consultants to Neuroptix Corporation and with Dr. Moir to Covance, Inc. The authors reported no commercial research funding or other competing interests.<\/p>\n","protected":false},"excerpt":{"rendered":"

A team of researchers has discovered that the protein that forms plaques in the brain in Alzheimer\u2019s disease also accumulates in the eyes of people with Down syndrome. The new findings in Down syndrome show that the toxic protein, known as amyloid-\u03b2, that causes Alzheimer\u2019s pathology in the brain also leads to distinctive cataracts in […]<\/p>\n","protected":false},"author":903,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":[],"categories":[1],"tags":[],"_links":{"self":[{"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/posts\/6445"}],"collection":[{"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/users\/903"}],"replies":[{"embeddable":true,"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/comments?post=6445"}],"version-history":[{"count":0,"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/posts\/6445\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/media?parent=6445"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/categories?post=6445"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/tags?post=6445"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}