Publications by authors named "Maria Candida Deniz Naranjo"
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- Late-onset Alzheimer's disease (LOAD) is the most common type of dementia and is influenced by genetics.
- Researchers studied a lot of people (94,437) to find specific genes that may increase the risk of developing LOAD, confirming 20 known ones and discovering 5 new ones.
- They also found that certain genetic traits related to the immune system and how the brain processes proteins are linked to a higher risk of LOAD, suggesting there are more rare genes yet to be identified that could also play a role.
Article Synopsis
- * Our research uncovered three significant variants: a protective variant in the PLCG2 gene and risk variants in ABI3 and TREM2, known for their roles in Alzheimer's susceptibility.
- * The findings emphasize the importance of microglia, immune cells in the brain, suggesting that their genetic variations may contribute directly to the progression of Alzheimer's disease.
Article Synopsis
- This study aimed to find new genes linked to late-onset Alzheimer's disease by analyzing a large dataset from the International Genomics of Alzheimer's Project Consortium, which included over 25,000 Alzheimer's patients and around 48,000 controls.
- Researchers discovered new significant genetic loci on chromosomes 8 and 14, expanding the understanding of genetic susceptibility to Alzheimer's beyond previously known genes.
- The newly identified genes are involved in processes related to energy metabolism, protein degradation, and immune response, highlighting potential new targets for therapy in treating Alzheimer's disease.
Aim: Cholinergic dysfunction is a major neurochemical feature in Alzheimer's disease (AD), accountable for many cognitive dysfunctions and some psychiatric symptoms. Butyrylcholinesterase (BChE) is one of the cholinesterases with increased activity in the brain of Alzheimer's patients. Several mutations code for different BChE, such as the K variant, which is the most common and is capable of reducing BChE activity by 30%.
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