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Genetic alterations of δ-catenin/NPRAP/Neurojungin (CTNND2): functional implications in complex human diseases

Qun Lu1,2,3, Byron J Aguilar4, Mingchuan Li4,5

  • 1Department of Anatomy and Cell Biology, Brody School of Medicine at East Carolina University, Greenville, NC, 27834, USA. luq@ecu.edu.

Human Genetics
|July 6, 2016
PubMed

Insights

Genetic variations in the CTNND2 gene, encoding delta-catenin, are linked to numerous complex human diseases, including cancers and neurological disorders. This highlights CTNND2 as a vulnerable common target for mutations across various conditions.

Area of Science:

  • Genetics
  • Molecular Biology
  • Human Diseases

Background:

  • Complex human diseases often involve genetic variations like mutations and copy number variations.
  • The CTNND2 gene, encoding delta-catenin, has emerged as a significant player in various unrelated disorders.
  • Delta-catenin is an adhesive junction protein involved in Wnt signaling and cytoskeletal regulation via Rho GTPases.

Purpose of the Study:

  • To highlight the significant role of CTNND2 gene variations in complex human diseases.
  • To underscore delta-catenin as a common and vulnerable target for mutagenesis.

Main Methods:

  • Genome-wide association studies.
  • Molecular biology approaches.
  • Analysis of genetic variations and their functional impact.

Main Results:

  • CTNND2 variations are linked to a growing list of complex human disorders.
  • These disorders include various cancers, bipolar disorder, schizophrenia, autism, and others.
  • Delta-catenin's position at the intersection of Wnt signaling and Rho GTPases makes it a key regulatory point.

Conclusions:

  • The CTNND2 gene is critically involved in a wide spectrum of human diseases.
  • Understanding CTNND2's role offers insights into disease mechanisms and potential therapeutic targets.
  • Delta-catenin represents a unique convergence point for genetic vulnerabilities in human health.

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