Epigenetics reveals how gene expression can be modified through the interaction between environmental influences and genetics, without altering the underlying DNA sequence. The main epigenetic mechanisms include DNA methylation, histone modifications, miRNA gene silencing, and mitochondrial epigenetics. These mechanisms can activate or repress genes, changing cellular processes, which increase the risk of errors in DNA, leading to mutations that can also be carried through generations. These epigenetic modifications have been linked to many diseases, like mental health disorders, diabetes, cancer, and Alzheimer’s Disease (AD). The most common form of dementia is AD, and it is known for its cognitive decline, memory loss, and behavioral decline. AD accounts for 60-80% of the dementia cases and is predicted to affect 13.8 million individuals globally by 2060. At a molecular level, it involves the extracellular accumulation of β-amyloid (Aβ) plaques, leading to neuroinflammation, neuronal loss, and synaptic dysfunction. Current methods of diagnosis include neuroimaging and cerebrospinal fluid (CSF) biomarkers, which detect the disease after substantial neurodegeneration has occurred in late-stage AD patients. Epigenetic changes present a new avenue for early detection of AD using patient samples such as brain tissue, CSF, or blood. This paper examines DNA methylation and histone modifications in AD-related genes, such as PSEN1 (Presenilin 1) and APP (Amyloid Precursor Protein), which influence inflammation, neuron survival, and tau phosphorylation. Studying epigenetic changes provides hopeful opportunities for early diagnostic and personalized treatment strategies.
Ishani Sogi (Wed,) studied this question.