CTNND2 and Associated Diseases
Creative Biolabs is committed to accelerating the development of gene therapy. Based on our understanding of gene therapy and potential target genes, we now describe the CTNND2gene and associated diseases for our clients all over the world.
Overview of δ-Catenin
Encoded by the CTNND2 gene on chromosome 5p15.2, δ-catenin belongs to the subfamily of proteins with ten armadillo repeats. δ-Catenin sequences are neural-specific and share armadillo repeating sequence homology to β-catenin. δ-Catenin plays important roles in a variety of human diseases and has served as a potential target against various cancers, especially lung and prostate cancer.
Fig.1 Distribution of CTNND2 mutations in cancer. (Lu, 2016)
Distribution and Functions of δ-Catenin
Expression of δ-catenin begins during early embryogenesis. Subsequently, δ-catenin is highly enriched at the postsynaptic density (PSD) when neurons in the adult brain fully mature. In addition, δ-catenin is also expressed at the apical junction of the ependyma in the adult brain stem cell layer.
Studies have shown that δ-catenin interacts with a series of synaptic junction-associated proteins in neurons, such as N-cadherin, PSD95, and glutamate receptors at PSD. Gene deletion studies suggest that δ-catenin plays an important role in multiple brain functions involved in learning and mood, and is essential for the maintenance of mature cortical neural structure and function in vivo.
Fig.2 Summary of Wnt signaling involving δ-catenin and Rho GTPases. (Lu, 2016)
δ-Catenin Gene Alterations in Human Diseases
In recent decades, the development of sequencing technology allows for confirming and identifying gene variants in various human diseases.
- δ-Catenin gene alterations in neurocognitive disorders
Studies have shown that δ-catenin is significantly associated with amyloid precursor protein (APP) and that a missense mutation in δ-catenin, G810R, alters δ-catenin localization leading to Alzheimer's disease. Partial deletion of the δ-catenin sequence and partial duplication of its promoter region may lead to mild Cri-du-chat syndrome.
- δ-Catenin gene variations in other neurological disorders
δ-Catenin has distinct missense mutations and copy-number variations (CNVs) in autism spectrum disorder (ASD). Five mutations, including G34S, G275C, Q507P, R713C, and T862M, have been validated in ASD patients. In addition, the CNVs of δ-catenin are found to be important influencing factors in schizophrenia patients.
- δ-Catenin gene variations in cancers
Overexpress of δ-catenin can be detected in several cancers, such as prostate cancer, breast cancer, liver cancer, and ovarian cancer. Point mutations, missense mutations, and synonymous substitutions are also common mutational forms of δ-catenin in cancers.
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Reference
- Lu, Q.; et al. Genetic alterations of δ-catenin/NPRAP/Neurojungin (CTNND2): functional implications in complex human diseases. Human genetics. 2016, 135(10): 1107-1116.
