Genetics of Neurodegenerative Diseases:
Neurodegenerative diseases are conditions characterised by the progressive degeneration or death of neurons in the brain and nervous system. These diseases often lead to problems with movement (ataxia), mental function (dementia), or both.The genetic underpinnings of neurodegenerative diseases vary depending on the specific condition. Some neurodegenerative diseases are strongly influenced by genetic mutations, while others involve a complex interaction between genetic and environmental factors.
Advances in genomics, including genome-wide association studies (GWAS), are identifying novel genetic variants that contribute to neurodegenerative disease susceptibility. These findings are expanding our understanding of the molecular pathways involved in these disorders, such as
Protein misfolding and aggregation (e.g., alpha-synuclein in PD, amyloid-beta in AD).
Impaired autophagy and lysosomal function.
Mitochondrial dysfunction and oxidative stress.
Abnormal RNA processing (as seen in ALS and frontotemporal dementia).
Tracks:
Alzheimer's Disease (AD)
Parkinson's Disease (PD)
Huntington's Disease (HD)
Amyotrophic Lateral Sclerosis (ALS)
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