News Release
Monday, December 12, 2022
NIH-funded research suggests folks with Down syndrome might profit from Alzheimer’s illness therapies.
Amyloid plaques — protein clumps which are one of many hallmarks of Alzheimer’s illness—happen at roughly the identical degree within the brains of individuals with Down syndrome who’ve Alzheimer’s as they do in folks with types of hereditary, early-onset Alzheimer’s, in keeping with analysis funded by the National Institutes of Health. Based on the most important research of its variety up to now, the findings recommend that people with Alzheimer’s and Down syndrome might profit from collaborating in research on Alzheimer’s therapies aimed toward slowing formation of amyloid plaques.
The research was performed by Beau Ances, M.D., Ph.D., of Washington University in St. Louis, and colleagues from the Dominantly Inherited Alzheimer Network (DIAN) and the Alzheimer’s Biomarkers Consortium–Down Syndrome (ABC-DS). It seems in Lancet Neurology. NIH funding was supplied by the National Institute on Aging (NIA), the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), and the Investigation of Co-Occurring Conditions Across the Lifespan to Understand Down Syndrome Project.
“The similarity suggests that there may be common mechanisms underlying Alzheimer’s disease in people with Down syndrome and other inherited forms of Alzheimer’s,” mentioned Diana W. Bianchi, M.D., NICHD Director. “Future advances in understanding Alzheimer’s in people with Down syndrome may contribute to insights into other forms of the disease.”
Plaques are composed largely of aggregated amyloid beta proteins, that are encoded by the amyloid precursor protein (APP) gene and located on chromosome 21. Because folks with Down syndrome are born with an additional full or partial copy of chromosome 21, they’ve three copies of the APP gene. This causes them to supply an excessive amount of amyloid beta protein, resulting in the formation of plaques.
For the present research, researchers periodically performed MRI and amyloid positron emission tomography scans of the brains of individuals with Down syndrome. They then in contrast the outcomes to mind scans of people that have early-onset Alzheimer’s illness ensuing from inheriting pathogenic variants of the APP gene or the PSEN1 or PSEN2 genes, which code for enzymes that break down amyloid precursor proteins.
The research concerned 192 people with Down syndrome and 33 sibling controls from the ABC-DS trial. It additionally concerned 265 carriers of both the APP, PSEN1, or PSEN2 variants and 169 non-carrier members of the family who have been members within the NIA-funded DIAN trial, additionally a part of the management group.
“Multiple pathways may mediate brain damage in Alzheimer’s disease and related dementias,” mentioned Richard J. Hodes, M.D., NIA Director. “Studies like this can help researchers understand the commonalities or differences in pathways that mediate brain damage in distinct at-risk populations, such as those with Down syndrome and those with dominantly inherited early-onset Alzheimer’s. These findings may thus provide clues to developing treatments for these devastating disorders.”
Overall, the quantity of amyloid burden was related within the brains of individuals with Down syndrome to those that carry the gene variants for early-onset types of Alzheimer’s illness. For each teams, ranges of mind amyloid have been larger than the management group. In addition, the members with Down syndrome and early-onset Alzheimer’s who confirmed indicators of cognitive decline on considering and reminiscence exams had larger ranges of amyloid than their counterparts who confirmed no indicators of cognitive decline.
One distinction between the 2 teams was seen within the sample of mind amyloid plaque formation. The members who had early-onset Alzheimer’s had plaques in all areas of the cerebral cortex, the outermost layer of the mind. In distinction, the brains of individuals with Down syndrome didn’t have plaque deposits in the course of the occipital lobe, the portion of the cerebral cortex in the back of the mind.
The authors concluded that individuals with Down syndrome might expertise a really related sample of mind amyloid accumulation to that seen in folks with early-onset types of Alzheimer’s. The findings additionally present the good thing about together with people with Down syndrome in scientific trials—healthcare advances are made for folks with Down syndrome in addition to most of the people.
About the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): NICHD leads analysis and coaching to grasp human improvement, enhance reproductive well being, improve the lives of youngsters and adolescents, and optimize talents for all. For extra data, go to https://www.nichd.nih.gov.
About the National Institute on Aging (NIA): NIA leads the U.S. federal authorities effort to conduct and assist analysis on getting old and the well being and well-being of older folks. Learn extra about age-related cognitive change and neurodegenerative illnesses through NIA’s Alzheimer’s and related Dementias Education and Referral (ADEAR) Center website. Visit the primary NIA web site for details about a variety of getting old subjects, in English and Spanish, and stay connected.
About the National Institutes of Health (NIH):
NIH, the nation’s medical analysis company, consists of 27 Institutes and Centers and is a part of the U.S. Department of Health and Human Services. NIH is the first federal company conducting and supporting primary, scientific, and translational medical analysis, and is investigating the causes, therapies, and cures for each widespread and uncommon illnesses. For extra details about NIH and its applications, go to www.nih.gov.
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References
Boerwinkle AH, et al. Comparison of amyloid burden in people with Down syndrome versus autosomal dominant Alzheimer’s illness: a cross-sectional research. The Lancet Neurology (2022).
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