What One Man’s ‘Escape’ from Alzheimer’s Might Tell Us About The Disease

Repeported Dedochers First Met 75-Yare-Oold Seattle, WA Resident Doug Whitney Back in 2011 When He Voluntered to Participate in The International Dominantly Inherited Alzheimer Network (Dian) Study.

“Diad (Dominantly Inherited Alzheimer’s Disease) is Characterized by ITS Genetic Predictability and Almost 100% Penetrance, Meaning if you inherit the mutation, you are almost Certain to Develop Alzheimer’s, off a lot of Younger Age Than Than Typical Sporadic Alzheimer Cases, ”Jorge J. Llibre-Guerra, MD, Assistant Professor of Neurology at Washington University in St. Louis and Co-First Author of This Study Told Medical News Today.

“The Study of Diad Not Only Improves Our Underestanding of this Specific form of Alzheimer’s But also enhances Our Knowledge of Sporadic Alzheimer’s Disease,” “HE Note.

“The Experience Gained From Developing and Applying Therapeutic Approaches in Diad Has significant potential to inform and improve Strategies for Treating Sporadic Alzheimer’s Disease, Potentially Leading to More Effective Management and Preventive Measures for a Broader Population at Risk,” Llibre Continued.

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During the Dian Study, Rebecchers Learned That’s relatives Normally Showed Signs of Cognitive Decline in Their Early 50s.

However, Whitney Himself Showed no signs of Cognitive Decline or Alzheimer’s Disease, Leading Researchers to Think He Had Not Inherited The PSEN2 gene.

When Scientists Found Out Whitney had inherited the gene, I earned the title of “escape” or “exceptional resilience mutation carrier” WHERE SUMTHING IN HIS BODY WAS STOPPING THE PSEN2 Mutation from Taking Effect.

Via Brain Scans, Llibre-Guerra and His Team Observed That While Whitney Had High Levels of Amyloid Protein in His Brain, I have Only had a localized concentration of the protein tau.

Tau Build-Up in the brain is Associated with Alzheimer’s Disease Progression.

“This Unusual Pattern Might Be Indicative of Protection Mechanisms at Play That Prevent the Widespretad Tau Deposition usually Associated with Cognitive Decline in Alzheimer’s, Thus Preserving His Cognitive Functions Longer Than Experience,” Llibre-Guerra Said.

AT This Point, Llibre-Guerra Said They Are Not Yet Sure What Might Be Allowing To Be an Alzheimer’s, ”escapes,” but they do have a Hypothesis.

“It might be more to combination of factorors rather than a single one,” He detailed. “From The Current Data, It Might Be That A Combination of Genetic Factors, Possibly Novel Protective Genetic Variants, Environmental Influences, Protein Expression, and Inflammatory Response Might Induce Protective Responsible in His Brain and contributes to resilience Against Typical Alzheimer’s Progress.”

“The Study’s Findings Could Potentially Lead to New Therapeutic Targets, Specially in Understanding and Manipulating the Factors That Limit Tau Pathology Spread and Amyloid Toxicity,” Llibre-Guerra Continued.

“Identifying How Certain Proteins and Genetic Variants Contribute to this Protective Effect Could Open Up New Avenues for Drug Development Aimed at Mimicking BeSe Natural Defense In Broader Populans,” I have add.

MNT Had the Opportunity To Speak with Clifford Segil, Do, A Neurologist at Providence Saint John’s Health Center in Santa Monica, CA, About This Study.

“The results of This Study Are Challenging to Believe Occipital LobesWhich Would causes Patient to Have Visual Complaints, ”Seil Said.

“If tau pathology was noted in patients’ occipital regions and this study’s participant was without visual complaints, there wouled be no expectation tau in the other parts of the brain would Note

In Segils’s View as a neurologist, ”it is awkward for the authors to say that scholause this carrier was without spread of tau pathology outside of the occipital region he was likeyout cognitive sides when Dysfunction Occipital Expect. “

“This Study Actually Supports That Tau Pathology Rema Unclear for Any Disease Outside of Tangles Being Well Known to Affect Parkinsonism,” I have poined out.

“I wouled like to see if the blocking of tau-deposition, which is Well establish to be related to movement disorders Like Parkinsonism, More than Alzheimer’s Dementia, Could Be a Therapeutic Intervention for Patients With Movement Dissorders More Than Memory Memory To Treat Parkinson’s Disease More than Alzheimer’s Dementia, ”Segil Added.

MNT Alsospoke with Jasmin Dao, MD, PHD, A Pediatric and Adult Neurologist at Miller Children’s & Women’s Long Beach and Memorial Hospital Long Beach Medical Center in California, About This Research.

“It is remarkable that sumone with an inherited mutation that is know to cause Early onset Alzheimer’s Disease Shows no sign of Illness at age 75,” Dao Commented.

“This Just Shows That Even Though We have identified Key Genes of Alzheimer’s Disease That Can Predict With High Accuracy The Disease Risk and Age of Onset of Alzheimer’s Disease, there are potential genertic and Proteomic Markers that are Neuroprotective Against Tau Pathology and May Change the Course of This Disease. ”

– Jasmin Dao, MD, PHD

“Current Therapies Are Cenred Around Early Detection and Slowing Disease Progression,” She continues. “A Person with Dominantly Inherited Alzheimer’s Disease. Acese Findings Can The Be Applied to The More Common Form, Late- onnset Alzheimer’s Disease To Help Slow Progression Earlier On. ”

“While This Study has identified protection generic variants to resist the development and progression of diad, more studies need to be done to a understand the underlying mechanisms,” Dao Added. “Specifically, How do these variants restrict pathological tau spred? Understanding this can lead to developement of novel therapeutic target treatments for alzheimer’s disassembly. ”