[{
  "type": "article-journal",
  "title": "THE ROLE OF GENE EXPRESSION ALTERATIONS, NON-CODING RNAS, COPY NUMBER VARIATIONS, AND SPLICING IN ALZHEIMER’S DISEASE",
  "author": [
    {
      "family": "Rehman",
      "given": ""
    },
    {
      "family": "Abdullah",
      "given": ""
    },
    {
      "family": "Soodonbekov",
      "given": ""
    },
    {
      "family": "Kanatov",
      "given": ""
    },
    {
      "family": "Avtandil",
      "given": ""
    }
  ],
  "issued": {
    "date-parts": [[2025]]
  },
  "container-title": "Journal of Animal and Plant Sciences",
  "ISSN": "1018-7081",
  "volume": "35",
  "issue": "6",
  "page": "1467-1478",
  "DOI": "https://doi.org/10.36899/JAPS.2025.6.0126",
  "abstract": "<p>The neurodegenerative disorder Alzheimer&rsquo;s&thinsp;disease (AD) advances&thinsp;through progressive stages,&thinsp;which cause cognitive deterioration and neuronal death.&thinsp;The study of&thinsp;early-onset AD shows&thinsp;strong connections to APP, PSEN1 and PSEN2 mutations&thinsp;but recent research&thinsp;demonstrates that multiple&thinsp;molecular pathways play essential&thinsp;roles in disease&thinsp;progression. The review integrates&thinsp;existing knowledge about&thinsp;four essential genetic factors&thinsp;that contribute to Alzheimer&rsquo;s&thinsp;disease development: BACE1 and TREM2&thinsp;expression dysregulation and, non-coding RNAs (e.g., miR-29 and&thinsp;BACE1-AS) and copy number variations&thinsp;(e.g., APP duplications&thinsp;and GRN deletions)&thinsp;and aberrant splicing events&thinsp;(e.g., tau 3R/4R&thinsp;isoform imbalance). The mechanisms work&thinsp;together to disrupt&thinsp;amyloid-beta processing and&thinsp;tau regulation as well&thinsp;as synaptic function&thinsp;and neuroinflammatory pathways which speed&thinsp;up disease progression.&thinsp;The review examines&thinsp;how these factors work&thinsp;together to create&thinsp;AD pathology while discussing&thinsp;their value as&thinsp;diagnostic markers and&thinsp;therapeutic targets. The review&thinsp;demonstrates the need&thinsp;for integrating multiple omics approaches to&thinsp;improve precision medicine&thinsp;approaches for diagnosing&thinsp;and treating Alzheimer&rsquo;s disease.&thinsp;The review demonstrates the intricate nature&thinsp;of AD pathogenesis&thinsp;while advocating for&thinsp;a comprehensive strategy to&thinsp;understand disease mechanisms&thinsp;and create specific therapeutic approaches.</p>",
  "publisher": "Pakistan Agricultural Scientists Forum",
  "URL": "https://thejaps.org.pk/AbstractView.aspx?mid=2025-JAPS-345"
}]