Important insights into the pathophysiology of Alzheimer's by Saffy https://padlet.com/saffymcglynn/47t4kqagwrjm Through the use of DNA technology en-us 2017-11-28 18:50:54 UTC 2025-10-27 21:28:41 UTC hello@padlet.com https://padlet-assets.s3.amazonaws.com/icons/Lightdecrease.png saffymcglynn https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211103004 2017-11-28 19:02:12 UTC https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211103004 "The genetics of Alzheimer's disease." saffymcglynn https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211103312 Bagyinszky et al, 2014. The genetics of Alzheimer’s disease. Clinical Interventions in Aging. 9(1), pp. 535 - 51.]]> 2017-11-28 19:02:39 UTC https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211103312 Early Onset AD (<65): saffymcglynn https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211113997 1.     Amyloid precursor protein(APP).
2.     Presenilin 1 (PSEN1)
3.     Presenilin 2 (PSEN2). 
]]> 2017-11-28 19:18:07 UTC https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211113997 saffymcglynn https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211119837 2017-11-28 19:26:50 UTC https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211119837 PSEN1 and PSEN2 saffymcglynn https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211120081 Identified via linkage analysis.
- Highly homologous (67%) and may be involved in the onset of AD. 
- Missense mutations in PSEN1 increase Abeta production.]]> 2017-11-28 19:27:16 UTC https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211120081 saffymcglynn https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211133661 2017-11-28 19:47:45 UTC https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211133661 saffymcglynn https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211378067 2017-11-29 13:42:39 UTC https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211378067 PCR saffymcglynn https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211379956 Used to monitor mutations in AD risk factor genes. DNA extracted and amplified by primers designed for genes:
- APP, PSEN1, PSEN2, and APOE]]> 2017-11-29 13:47:05 UTC https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211379956 Aims: saffymcglynn https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211841190 1. Establishing an understanding of the complete genetic mechanisms of AD.

2. Finding the potential genes involved in AD progression - an essential step in molecular diagnosis.

]]> 2017-11-30 14:01:58 UTC https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211841190 Late Onset AD (>65): saffymcglynn https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211845469 The Apolipoprotein E (APOE) E4 allele*
Genotyping analysis: Allele/ genotype frequency compared using Chi-square and Fisher's exact tests.
*Higher frequency found among AD patients. ]]> 2017-11-30 14:08:40 UTC https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211845469 saffymcglynn https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211850349 APOE - Cholesterol carrier (Brain). Involved in neuronal maintenance and repair/ clearance of Abeta. ]]> 2017-11-30 14:16:14 UTC https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211850349 SNP arrays saffymcglynn https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211866010 Single-nucleotide polymorphism - variation in nucleotide at a specific position in the genome. 
E.g: Single base mutation in APOE gene associated with higher risk of AD.]]> 2017-11-30 14:38:41 UTC https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211866010 Restriction Fragment Length Polymorphism (RFLP) saffymcglynn https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211869672 Mutation detection method based on recognition of a specific cleavage site. Can be used for genetic mapping and linkage analysis.]]> 2017-11-30 14:44:09 UTC https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211869672 Denaturing gradient gel electrophoresis (DGGE) saffymcglynn https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211871244 Rapid mutation detection based on mobility DNA in polyacrylamide gel loaded with increasing concentrations of denaturing chemicals.]]> 2017-11-30 14:46:23 UTC https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211871244 saffymcglynn https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211873308 2017-11-30 14:49:59 UTC https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211873308 GWAS saffymcglynn https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211873556 Potential risk factor genes include clusterin (CLU), complement receptor 1 (CR1).]]> 2017-11-30 14:50:26 UTC https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211873556 Conclusions saffymcglynn https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211874635 1. Genetic analysis can improve the differential diagnosis of neurodegenerative dementias. 

2. GWAS/ next generation sequencing may improve the prevention and treatment of AD.]]> 2017-11-30 14:52:12 UTC https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211874635 saffymcglynn https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211880060 2017-11-30 15:00:20 UTC https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211880060 saffymcglynn https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211881367 AlzGene database: Potential genes related to AD]]> 2017-11-30 15:02:19 UTC https://padlet.com/saffymcglynn/47t4kqagwrjm/wish/211881367