UNRAVELING THE ROLE OF PROTEIN FOLDING DISORDERS IN HUMAN DISEASES: MECHANISMS, PATHOLOGICAL IMPLICATIONS, AND THERAPEUTIC STRATEGIES

Abstract

Protein folding represents a fundamental biological process which cells require to maintain their functionality and equilibrium. Several human diseases which are categorized as protein folding disorders or conformational diseases develop because of proteins that have improperly folded. The range of conditions covered involves neurodegenerative diseases such as Parkinson's and Alzheimer's as well as metabolic disorders like phenylketonuria. The study investigates protein misfolding mechanics and its pathological effects while exploring new treatment methods for related diseases. Our research examines how PQC systems operate alongside genetic mutations and their subsequent physiological responses to protein misfolding which results in aggregation and oxidative stress. In our final section we examine several treatment possibilities including gene therapy as well as proteostasis modulators and pharmaceutical chaperones. It has been concluded that many diseases known as protein folding disorders exist because of fundamental protein misfolding events that lead cells or tissues toward aggregation and accumulation. Several negative outcomes appear from these conditions after genetic mutations alongside environmental stress and aging produce loss of function and gain of function with oxidative stress and cellular dysfunction. The complexity of these illnesses has enabled researchers to understand better the protein misfolding process and develop sufficiently reliable treatment strategies. Scientists are currently exploring four promising therapeutic methods that include antioxidants alongside gene therapy and proteostasis regulators and pharmacological chaperones. Treatment approaches involve lowering pathogenic protein misfolding symptoms and proteostasis restoration together with misfolded protein reduction. Current pharmaceutical development maintains optimism about protein folding disorder treatments although additional barriers remain before success becomes achievable.