New Alzheimer risk gene discovered: Details inside


A new paper in the Journal of Neuropathology and Experimental Neurology finds a gene that may help explain a large part of the genetic risk for developing Alzheimer’s disease. Late-onset Alzheimer’s disease, the most common form of the disease, is a devastating neurological condition with incomplete risk aspects that are incompletely understood.

Unfortunately, the complexity of the human genome and the drawbacks of earlier research are limiting factors, so that some genetic phenomena were not fully surveyed in prior studies. For example, there are several incompletely mapped genomic regions and regions with repetitive sequences, which could not be studied earlier.

Although Alzheimer’s is mainly considered justifiable, a substantial proportion of the actual genetic risk for the disease, despite extensive studies, remains unclear. This knowledge gap is known to researchers as a “missing (or hidden) heredity” problem.

For example, while heredity accounted for 79% of late-onset Alzheimer’s disease risk in a Swedish twin study, common risk variants identified by general genetic studies showed only 20% of late-onset Alzheimer’s disease. It is explained by 50%. In other words, the relatively large amount of genetic effects on late-onset Alzheimer’s disease risk were not demonstrated by prior genetic studies.

Recent advances in sequencing techniques have enabled more extensive studies. Such developments allow for more precise and precise identification of genetic material, which was available in earlier gene variant studies.

In the current study, researchers analyzed Alzheimer’s Disease Sequencing Project data obtained from more than 10,000 people (researchers who agreed to evaluate their genetic data in combination with their disease status) aimed at late-onset Identifying the genetic variation associated with Alzheimer’s disease.

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New Alzheimer risk gene discovered: Details inside

Preliminary results found evidence for late-onset Alzheimer’s disease, a genetic variation within a segment of a gene called mucin 6. Although the underlying mechanisms are still unknown, researchers believe that it is possible to draw reliable and testable hypotheses based on these results.

For example, the genetic variant that was associated with Alzheimer’s disease risk may implicate a biochemical pathway in the brain that represents a potential therapeutic target for future studies.

Both authors were Yuriko Katsumata and Peter Nelson from the University of Kentucky. Dr. Nelson said of this study, “Our findings were made in a group of patients who are relatively small for genetics studies – some recent studies included hundreds of thousands of research subjects! The small sample size means two things: First, we need it! Exercise caution, and we need to make sure that the event can be repeated in other groups. Second, it implies that a flowing There is a considerable effect size – genetic variation is strongly associated with the disease. “


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