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2016 Biomarkers Across Neurodegenerative Diseases Grant (BAND)

Seed of Dementia: Misfolded Proteins in Neurodegenerative Disorders

Can a new technology that non-invasively measures low levels of toxic proteins be used to detect neurodegenerative diseases at the earliest stages?

Fabio Moda, Ph.D.
Foundation Carlo Besta Neurological Institute
Milan, Italy



Background

In neurodegenerative diseases — such as Alzheimer’s disease, dementia with Lewy Bodies, and frontotemporal dementia —normal proteins in brain cells can change shape and accumulate, forming toxic clumps. The toxic protein varies with each type of neurodegenerative disease, but the end result is the same — progressive brain cell damage and reduced brain functioning.

It can be challenging to diagnose most neurodegenerative diseases, which can prevent affected people from receiving the care and services they need. New methods to detect the earliest stages of disease, such as the initial build-up of toxic protein clumps, may help clinicians diagnose and differentiate neurodegenerative diseases that can have overlapping symptoms. Early detection would also allow for future treatments to be administered before significant brain cell damage occurs.

Research Plan

Dr. Fabio Moda, Ph.D., and colleagues have developed a new technology called RT-QuIC (real-time quaking-induced conversion) which can detect low levels of toxic protein clumps. A unique aspect of this test is that it only requires a small sample of tissue from inside the nose, which can be obtained safely and non-invasively during a routine medical visit. Furthermore, the RT-QuIC test is very sensitive for detecting different types of toxic protein clumps. For the current studies, Dr. Moda’s team will use RT-QuIC to help detect and differentiate between early-stages of Alzheimer’s disease, dementia with Lewy bodies, and frontotemporal dementia.

Impact

The results of these studies may contribute to the development of a safe and easy test for detecting and diagnosing different neurodegenerative diseases at their earliest stages, often before clinical symptoms are evident. A test that improves the early identification of the disease could allow for future treatments to be administered before significant brain damage has occurred.

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