MODY-like Diabetes Linked to a Balanced Translocation and MPP7 Gene
Author Information
Author(s): Bhoj Elizabeth J, Romeo Stefano, Baroni Marco G, Bartov Guy, Schultz Roger A, Zinn Andrew R
Primary Institution: The University of Texas Southwestern Medical Center
Hypothesis
The translocation disrupted a diabetes gene.
Conclusion
The translocation and MODY-like diabetes in the proband could be coincidental, but MPP7 may play a role in islet cell dysfunction.
Supporting Evidence
- The translocation did not disrupt known diabetes-related genes.
- MPP7 is highly expressed in mouse pancreas and human islets.
- The translocation breakpoints were mapped to high resolution.
Takeaway
A man with a specific type of diabetes had a genetic change that might be linked to a gene important for cell function, but it's not clear if they are connected.
Methodology
The study involved mapping translocation breakpoints and analyzing gene expression near these breakpoints.
Limitations
The study is based on a single case, limiting generalizability.
Participant Demographics
The proband was a 32-year-old Italian man.
Digital Object Identifier (DOI)
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