Down Syndrome, Alzheimer's Disease and Drug Trials

Jo C.

Stunningly; 90% of people with Down Syndrome will develop Alzheimer's Disease, much of the onset being in their 40's and 50's.  Considering the recent disagreement re drug approval, this is an informative link, and in some aspects, heartbreaking.   Well worth reading the entire article:

https://www.yahoo.com/news/people-down-syndrome-longer-life-102915167.html

 J.

Lane Simonian

This was a very powerful article, and well worth reading.

Much about Alzheimer's disease can be learned from the study of Down syndrome (and vice versa).  Perhaps most importantly, individuals with Down syndrome have an extra chromosome containing a gene for the sodium/myo-inositol co-transporter.  This is one of the reasons why people with Down syndrome often develop dementia later in life.

High blood pressure due to high sodium consumption also increases myo-inositol levels in the brain as does high glucose levels.  

High myo-inositol levels increase amyloid production, but more importantly they increase oxidative stress in the brain.  Those with Down syndrome also have high levels of hydrogen sulfide, which acts as an antioxidant, but can cause other problems in the brain and these high levels of hydrogen sulfide don't hold off the onset of dementia for ever given the high levels of myo-inositol in the brain of someone with Down syndrome.

Anti-oxidant treatments rather than anti-amyloid treatments are more likely to be more effective in the treatment of both Alzheimer's diseae and Down syndrome.

Crushed

"People with Down syndrome are born with an extra copy of chromosome 21, which carries a gene that produces a specific protein called amyloid precursor protein (APP). Too much APP protein leads to a buildup of protein clumps called beta-amyloid plaques in the brain. The presence of beta-amyloid plaques is one of the hallmarks of Alzheimer's disease".

NIH

 

https://www.nia.nih.gov/health/alzheimers-disease-people-down-syndrome

JoseyWales

I knew Alzheimer's was common among people with Down Syndrome, but I had no idea it was 90%. That's stunning. 

Thanks for sharing.

Lane Simonian

This is the other extra gene which makes people with Down syndrome more prone to dementia.  I would take issue with the NIH's characterization that amyloid plaques are a hallmark of Alzheimer's disease.  They are usually present but their removal makes almost no difference in the progression of the disease.

Crushed

Lane Simonian wrote:

This is the other extra gene which makes people with Down syndrome more prone to dementia.  I would take issue with the NIH's characterization that amyloid plaques are a hallmark of Alzheimer's disease.  They are usually present but their removal makes almost no difference in the progression of the disease.

A  "hallmark" is simply something that identifies a disease for diagnosis 
e.g. the Buboes of bubonic plague
also
The hallmark symptom of Huntington's disease is uncontrolled movement of the arms, legs, head, face and upper body.

MN Chickadee

I'm unclear what you mean regarding the CMS decision in this instance. I've only seen mention of the drug being limited by Medicare, which most of these folks with Down Syndrome would not be on yet since they are getting Alz much younger than 65. Is/was there a separate decision for Medcaid? 

Michael Ellenbogen

Any one can be on SSDI at a younger age.

Michael Ellenbogen

I have no idea why I wrote the above line. I can only think I wanted to paste it in a different tread. Just don’t know were.

Stuck in the middle

Michael, you were responding to a question that has been deleted.  You are correct that Medicare is not only for the elderly.  People who receive disability benefits (including disabled adult child benefits) can become eligible for Medicare at any age.