Genetic Determinants of Parkinson's Disease: SNCA and LRRK2 in Focus

Genetic Determinants of Parkinson's Disease: SNCA and LRRK2 in Focus

DOI: 10.4018/979-8-3693-1115-8.ch011
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Abstract

The chapter delves deeply into the complex genetic and molecular causes, focusing on SNCA and LRRK2 mutations. In addition to exploring the genetic dimension, the authors delve into the intricate molecular pathways involved in neurodegeneration, elucidating the roles of protein misfolding and aggregation, oxidative stress, neuroinflammation, and mitochondrial dysfunction. These processes are examined in detail, revealing prospective treatment targets for drug development and interventions, giving Parkinson's disease patients hope. Furthermore, they critically evaluate the current genetic research developments including genome-wide association studies and CRISPR-Cas9. These developments promise customized medicine and creative therapeutic ways to transform novel Parkinson's disease treatments. This chapter study promises individualized treatments and a brighter future where genetic and molecular interactions can be harnessed to improve diagnosis, therapy, and the search for a cure, providing patients with this debilitating ailment hope and a better quality of life.
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1. Introduction

Parkinson's disease (PD), a habitual and progressive neurodegenerative disorder, has long complexed the medical community with its multifaceted and enigmatic nature. It imposes a heavy burden not only on the individualities directly affected but also on their families and caregivers. As a result of its intricate clinical donation and the variability in disease progression, PD has defied a simple characterization, making it one of the most challenging mystifications in contemporary medicine (Mihael H., et al. 1997). While the exact etiology of PD remains incompletely understood, there is growing agreement that heritable and molecular factors play a vital part in the disease's pathogenesis, offering precious perceptivity into its underpinning mechanisms, progression, and implicit treatment avenues. The hallmark of Parkinson's disease is the grim and picky loss of dopaminergic neurons within the substantia nigra, a region of the brain responsible for motor control. This neuronal loss precipitates a cascade of symptoms, including bradykinesia, earthquake, inflexibility, and postural instability. These motor symptoms, collectively known as parkinsonism, are constantly accompanied by a range ofnon-motor features, analogous as cognitive impairment, mood disturbances, autonomic dysfunction, and sleep disturbances, further complicating the clinical picture . Despite significant advances in our understanding of the disease, Parkinson's remains a clinical opinion grounded on its characteristic motor instantiations. individual certainty frequently requires times of clinical observation, and by the time cases admit a definitive opinion, a substantial proportion of their dopaminergic neurons may have formerly been lost. As we continue to explore the inheritable and molecular angles of this disease, the thing isn't only to unravel its complexity but also to enable earlier opinion and to discover new avenues for intervention. The multifactorial nature of Parkinson's disease suggests that both inheritable predilection and environmental factors are involved in its onset and progression. Still, this paper primarily focuses on the inheritable and molecular aspects of PD, feting their abecedarian places in shaping the disease geography.

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