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Are there konwn mutations in the genes encoding beta and gamma secretases that will cause the development of Alzheimer's disease?

User Marton
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Final answer:

Mutations in the genes encoding beta and gamma secretases are associated with early-onset Alzheimer's disease, while the APOE E4 variant is a known risk factor for late-onset Alzheimer's disease. Genome-wide association studies have identified additional genetic factors contributing to Alzheimer's susceptibility in the elderly.

Step-by-step explanation:

Yes, there are known mutations in the genes encoding beta and gamma secretases that can cause the development of Alzheimer's disease (AD), particularly early-onset Alzheimer's disease. While mutations in these genes are less common and affect a small percentage of Alzheimer's patients, they are significant because they usually result in Alzheimer's disease beginning at a relatively young age, between 30 and 60. For late-onset Alzheimer's disease, which is more common, genetic factors such as the apolipoprotein E (APOE) gene also play a role. A particular variant of this gene, known as E4, increases the likelihood of developing the disease. Recent genome-wide association studies have uncovered additional genes that may contribute to the susceptibility of Alzheimer's disease in the elderly.

Alzheimer's disease is characterized by progressive neuronal death leading to dementia and has two pathological hallmarks: neurofibrillary tangles and plaques consisting of beta-amyloid peptides. The enzymes beta and gamma secretases are involved in the production of these beta-amyloid peptides. Hence, mutations that lead to the altered function of these secretases can contribute to the accumulation of beta-amyloid plaques, a process thought to be central in the pathology of AD.

User Nubkadiya
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