![]() Moreover, protein aggregates do not always correlate perfectly with the disease process. Note that some NDD mutations do not lead to aggregation of the encoded protein but instead increase aggregation of key NDD proteins, e.g., Presenilin 1 and 2 (PSEN1, PSEN2). Examples include several genes encoding amyloid precursor protein (APP) and tau in AD and α-synuclein in PD. However, several such NDDs display protein aggregation as a secondary effect, contributing to a chronic aggravating phase (e.g., tau in TBI).Ī causal link between these disease-causing mutations and amplified aggregation of the encoded protein is a common feature among different NDDs, supporting a toxic gain-of-function (GOF) mechanism. In non-proteinopathic diseases, e.g., traumatic brain injury (TBI), chronic traumatic encephalopathy (CTE), stroke, spinal cord injury (SCI), and multiple sclerosis (MS), the primary neuronal insult is unrelated to protein aggregation. However, this phenomenon could also contribute to disease progression in combination with other hallmarks of NDDs. For many of these NDDs, protein aggregates have been identified in brain regions. There is adequate data on the contribution of protein aggregation to the neurodegenerative process in proteinopathic NDDs, examples of which include Alzheimer's disease (AD), Parkinson's disease (PD), and prion disease (PrD). The following are the eight hallmarks of NDDs: Pathological protein aggregation It eventually impairs or breaks down the core cognitive, sensory, memory, and motor functions in the affected patients. NDDs affects millions globally, causing irreversible loss of neurons in the central and peripheral nervous system (CNS/PNS). However, the primary NDD hallmark depends on the NDD insult and the neuronal susceptibility and resilience, i.e., one's ability to handle insults in the affected brain region. In addition, they contribute to neuronal loss in preclinical (animal) models and NDD patients, manifesting as an altered molecular (hallmark) biomarker.Īn NDD patient could have defects in multiple NDD hallmarks. Image Credit: ART-ur/Shutterstockĭespite being linked to rare genetic forms, all eight NDD hallmarks (cellular/molecular processes) also contribute to sporadic NDDs. ![]() Study: Hallmarks of neurodegenerative diseases. In a recent study published in Cell, researchers presented eight hallmarks of neurodegenerative diseases (NDDs), their in vivo biomarkers, and interactions to help categorize NDDs and specify patients within a specific NDD. By Neha Mathur Reviewed by Danielle Ellis, B.Sc.
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