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A new paper in the Journal of Neuropathology & Experimental Neurology finds a gene that may help explain a large part of the genetic risk for developing Alzheimer disease.
Posted 21 November 2019 - 12:40 PM
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A new paper in the Journal of Neuropathology & Experimental Neurology finds a gene that may help explain a large part of the genetic risk for developing Alzheimer disease.
Posted 25 November 2019 - 06:40 AM
I skimmed the source, looking for SNPs, and found 3, but because "VNTR regions have been at least partly omitted from high-throughput genomic research for technical reasons, and therefore not included in many genotype-phenotype correlation analyses", they don't show up on 23andme.
Some quotes I found interesting:
The term VNTR describes end-to-end iterations of repetitive genomic sequences >= 6 bp in length
Unfortunately, the MUC6 VNTR region is extremely difficult to sequence, for technical reasons, related to the size, number, and interindividual differences of the tandem repeats
The MUC6 gene is a member of the mucin gene family. An interesting feature of this gene family is that tandem repeats reside in exons, and therefore they are transcribed and translated.
The repetitive polypeptide domains help constitute the “main components of mucus” and, when glycosylated, these amino acid motifs provide a basis for the “gelforming” characteristics of mucin proteins.
MUC6 is expressed preferentially in epithelial tissues, particularly in the gastrointestinal tract. Hence, a major focus in prior work has been on how the MUC6 VNTR polymorphism is associated with risk for gastrointestinal diseases—ulcers, gut infections, and stomach or intestinal cancers. However, this unique tandem repeat region may have broader impact. The MUC6 VNTR polymorphism may affect 2 organ systems—brain and digestive tract—through influencing the expression of at least 2 separate genes.
We also speculate that the MUC6 VNTR polymorphism is a possible reason why some individuals (those with more MUC6 VNTR repeats) may be relatively vulnerable to tauopathy with a given burden of Aβ plaques.
Edited by xEva, 25 November 2019 - 06:45 AM.
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