August 2024 Newsletter | Genes, Things and Blood Tests
My mission is to be the first woman in 4 generations to not develop Alzheimer’s Disease (AD). On my journey of discovering ways to mitigate my risk, I pass this information on to you in this Brain-Body-Health (BBH) Newsletter.
Hello BBH Citizen Scientists!
Just in the last few weeks since giving the keynote introduction to the Dementia Dilemma Conference there have been exciting breakthroughs in the field of AD research. I am over the top excited about these discoveries that are opening more doors to our understanding and growth in the field of neurodegenerative diseases.
AD Blood tests: Several news sources have highlighted the amyloid, and tau blood markers that are now available, including www.brainbodyhealth.org.
Researchers believe that this will aid in not only early and accurate diagnoses, but the bigger beneficiaries will be those who have trouble accessing care.
Neurofilament Light (Nfl) a new blood marker for neurodegeneration and inflammation and possibly helpful in the future diagnosing psychiatric illness.
In our own backyard we have this UCSF article with more information about testing:
What if you test + and you have no symptoms? The test will act as a monitoring tool much like was discussed in the news article on “The Last Alzheimer’s Patient”.
What are the costs? Considerably less than $5000 for a PET scan.
Will Medicare cover costs? Probably eventually but right now you will pay $400- 600 out of pocket.
Who will get the test? To start with many of us with a family history or knowledge of their APOE 4 risk, or people who are already self-appointed citizen scientists and want to understand further their risk and/or monitor for the disease markers.
Will I get the test? After weighing the pros and cons… yes, I will get the blood test for amyloid, tau, and NfL. The way I look at these markers is it gives me the opportunity to monitor closely the actual pathological substances that cause AD. If I am positive for amyloid, tau or NfL, it doesn’t mean I have AD but it can give me an idea of how much amyloid, tau, inflammation, and neurodegeneration I have in my brain. Along with cognitive tests and other blood markers, I can apply SLEDDSSSS from the BBH program and follow steps to better brain health. This will enable me to see if the disease is increasing or decreasing.
Would you get the test? This is an entirely individual choice. What it may provide you with are markers that will inform your lifestyle choices, particpation in a study, or trial of medication. We already know that when people gain more information about a disease they are at risk for, they often become more proactive, as seen in the Reveal Study involving APOE4 genetic testing.
New genes on the scene:
Many of you know about the APOE 4 gene that I and the majority of my family members carry. Thanks to researchers more is being sleuthed out. The value of knowing these genes and the proteins they produce allows us to begin medication or make lifestyle changes that can reduce the development of AD.
Here’s the gene lineup:
RELN gene: produces a protein called Reelin where people did not develop AD, despite having large amounts of amyloid in their brains.
Christchurch gene: researchers believe the Christchurch variant — named after the city in New Zealand where it was first discovered — helps to slow the progression of Alzheimer’s.
Klotho gene: produces klotho protein that gradually diminishes with age. Klotho deficiency is associated with cognitive impairment, reduced growth, diminished longevity, and the development of age-related diseases, especially chronic kidney disease. Studies are underway using medications that increase klotho protein.
Picture above: Beta-amyloid plaques and tau in the brain. Tau is a protein known to form pathological tangles in brains with Alzheimer’s disease. The patient's brain pictured above had tau tangles in some regions of his brain, however minimal in the entorhinal cortex, whose functions include memory, navigation, and the perception of time. This led to the discovery of the RELN gene.
Why is this important: Genes produce proteins that change responses in the body. Scientists believe protective variants can be replicated and then given to humans to safeguard us from developing Alzheimer’s disease. The RELN and Christchurch gene came from a line of family members living around Medillin, Columbia. These family members carry the Paisa gene (called now Presenilin or Presyn-1) which causes Early Onset Alzheimer’s Disease (EOAD) resulting in dementia symptoms developing by the mid 40’s. This is a dominant gene, meaning only one copy is needed to inherit this rare form of Familial AD that accounts for 1-6% in people < 65 years old. It is thought to have originated in the descendants from an early Spanish conquistador. These individuals who have the RELN and Christchurch genes go on to develop AD much later in life following a pattern close to that of Late Onset Alzheimer's disease (LOAD). Scientists are piecing together why while experimenting with medication and lifestyle factors that mimic these proteins and stimulate protective pathways.
Lessons from Coaching:
When Daniel Gibbs, M.D., a neurologist, who enrolled in an Alzheimer’s study at UC San Francisco almost a decade ago, researchers needed access to a secure government facility just to confirm that he had the disease. His book entitled, “Tattoo On My Brain” tells of his work as a neurologist caring for persons with AD and later developing the disease. He found out later he has 2 copies of APOE4 despite having no family history of AD. His mission is to spread the word about early diagnosis, treatment and how he lives his life to the fullest despite having AD, shared in his blog.
I often get asked what are first signs of AD? For Daniel Gibbs MD, neurologist, it was the loss of smell. For others, it is navigation - a familiar turn that is forgotten or a common route is no longer remembered. Recently another symptom of apathy has been named as a common early symptom that may mark greater amyloid deposition. Upon reading this research my memory returned to witnessing my mother’s lack of involvement in things that usually brought her pleasure. She seemed to be retreating from life. A stark contrast to her usual extroverted self. I noted it…so when this research came out this week, it hit a familiar and sad chord. A reminder of the devastation this disease has on so many.
I offer coaching sessions to help navigate and improve brain health for you or a loved one. Contact me to schedule a session.
Lessons from Science:
Almost all APOE4 homozygotes exhibited AD pathology and had significantly higher levels of AD biomarkers from age 55 compared to APOE3 homozygotes. By age 65, nearly all had abnormal amyloid levels in cerebrospinal fluid, and 75% had positive amyloid scans, with the prevalence of these markers increasing with age.
Learn more about the early signs of AD.
Blood NfL levels are altered in psychiatric disorders. While the extent of NfL alteration strongly vary across diagnostic entities, clinical stage, and patient subgroups, the magnitude of NfL elevation in patients was present with depression, bipolar disorder, anorexia, and substance use disorder.
In the 1980s, a University of Antioquia neurologist, Francisco Lopera, discovered the family that had been afflicted with this inherited mutation, passed from generation to generation, for decades. Using advances in genetic testing, doctors identified the inherited mutation that triggered early-onset Alzheimer's (EOAD) in these family members. It was called the Paisa mutation, named after the inhabitants of the region and later named PreSyn1. For decades, researchers have been studying 6,000 members of the Colombian family cohort looking for insights into Alzheimer’s. The scientific community has great appreciation for all of the family cohort that has been involved in ongoing research for years.
The first and largest study to focus on people who have early signs of Alzheimer’s disease but are not yet showing symptoms.
To our optimized health!
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To our optimized health!