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For the first time, a study shows the existence of genetic recombinations in the brain. The process that would use a reverse transcriptase enzyme can generate thousands of gene variants APPwho is involved in Alzheimer's disease.
Scientists from Burnham Sanford Prebys Medical Discovery Institute, a research center in San Diego, California, have found that genetic recombination can take place in neurons. The study published in Nature became interested in the gene APP which encodes the precursor of theamyloid, the protein that tends to accumulate in the brains of Alzheimer's patients.
In this research, all of the Alzheimer's brain samples studied contained many gene variants APPmore than could be found in normal brains. Among these variants, there were in particular eleven mutations known to promote familial forms of Alzheimer's disease.
Many variations of the gene APP thanks to a reverse transcriptase
To modify the genome of the cells, there had to be two steps: a retrotranscription (the synthesis of a DNA from an RNA) and the reinsertion of the genetic variant into the genome. Reverse transcription requires an enzyme called reverse transcriptase, a type of enzyme found in retroviruses such as HIV. This enzyme is not very reliable, it makes a lot of errors, hence the possibility of mutations. These results suggest that drugs ARVs could be effective against the disease ofAlzheimer !
Genetic recombination is a known process in germ cells, but also in immune cells such as B cells. This is the first time it has been identified in the brain. According to Jerold Chun, author of this work, this genetic recombination would be both "A normal process for the brain and a process that goes wrong in Alzheimer's disease. "
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