Signing 3 genes may help diagnose Angelman syndrome Study suggests levels of 3 genes may be a biomarker of disease

The expression or activity of a trigene is altered in the neurons of affected people Angelman syndromeA new study suggests that researchers say assessing these levels may help diagnose the disease.

two genes, ADAMTS2And the SLC30A8its expression was lower than normal in neurons, while the third expression was, ACTN1found that his activity was higher than usual.

The result developed by assessing the levels of these three genes ‘could serve as a biomarker to differentiate AS’ [Angelman syndrome] of normal patients,” according to the researchers.

This study may provide [a] A new approach to diagnosing patients [Angelman syndrome] Assisting in the development of new therapies in treatment [Angelman] patients,” the team wrote.

the study, “Identification of key biomarkers in Angelman syndrome by multi-cohort analysis“in frontiers in medicine.

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Finding Angelman’s New Biomarkers

Angelman syndrome due to mutations that affect the mother UBE3A gene. Genetic testing can identify the disease-causing mutation in about 90% of patients. But for nearly one in 10 people who are infected, Angelman-like symptomsGenetic testing is inconclusive.

Finding new Angelman biomarkers–objective biological measures that can distinguish people with a neurological disorder from others–may be helpful in Confirm the diagnosis in these patients.

In this study, a team of scientists at Tongji Medical College in China analyzed gene expression data in cell models. Gene expression refers to the extent to which individual genes in a cell are “read” to produce proteins.

For these analyses, the researchers used previous data collected from iPSC-derived neurons. In this type of model, easily accessible cells (for example, skin or blood cells) are collected from patients and then “reverse-engineered” into stem cells via a specific set of biochemical manipulations.

Then, these stem cells – called induced pluripotent stem cells, or iPSCs – are given additional signals so that they grow into nerve cells (neurons).

The researchers performed preliminary analyzes of gene expression using data from a total of 48 iPSC-derived neurons. These results revealed that the gene ACTN1 It is upregulated in Angelman cells, while genes ADAMTS2 And the SLC30A8 They are regulated in cells.

The ACTN1 The gene provides instructions for making a protein that helps build the cytoskeleton – a network of proteins inside cells that help maintain the structure of cells.

The team notes, to their knowledge, that this is the first published report of an abnormality ACTN1 Expression in Angelman syndrome.

The ADAMTS2 The gene encodes a protein involved in maintaining the extracellular matrix, a protein network outside cells that helps maintain tissue function. The protein encoded by SLC30A8 The gene helps regulate zinc movement.

The researchers noted that “it is possible that zinc transporters play a direct role” in Engelmann.

The team then validated these gene expression results using data from six human embryonic stem cell lines. Consistent with preliminary findings in iPSC-derived neurons, the results showed that these three genes were differentially expressed in Angelman cells.

The expression signature based on the three genes was able to distinguish Angelman cells from non-Angelman cells with 100% accuracy in these cell lines.

“We have developed a model for [Angelman syndrome] Scores using these three genes at the same time,” the researchers wrote. They called their model the “AS signature,” referring to the “three diagnostic biomarkers.”

The team emphasized the need for further research to confirm these findings, and to investigate the potential roles of these genes in the processes of Angelman disease.

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