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Published on: August 8, 2022
Cadherins as targets for genetic diseases
Aziz El-Amraoui1, Christine Petit
1Institut Pasteur, Unité de Génétique et Physiologie de l'Audition, 25 Rue du Dr Roux, 75015 Paris, France. aziz.el-amraoui@pasteur.fr
Human cadherin superfamily proteins are crucial for cell adhesion in various tissues. Mutations in these genes cause inherited disorders, including deafness and skin conditions, highlighting their importance in health and disease.
Area of Science:
- Genetics and Molecular Biology
- Cell Biology
- Human Disease Research
Background:
- The human population's genetic diversity offers insights into subtle defects and late-onset disorders.
- Cell-cell adhesion proteins, particularly the cadherin superfamily, play vital roles in human health.
- Inherited disorders provide a unique model for studying cadherin function.
Purpose of the Study:
- To investigate the role of cadherin superfamily proteins in inherited human disorders.
- To explore the involvement of cadherins in monogenic and multifactorial diseases.
- To highlight cadherins' significance in conditions affecting skin, heart, hearing, and neurological function.
Main Methods:
- Review of advances in understanding monogenic disorders related to cadherins.
- Analysis of single nucleotide polymorphism (SNP) association studies for multifactorial disorders.
- Examination of studies on Usher syndrome type 1 (USH1) and cadherin involvement.
Main Results:
- Desmosomal cadherins are critical for tissues under high mechanical stress like epidermis, hair, and myocardium.
- Cadherin 23 and protocadherin 15 are essential for auditory sensory cell development and function in USH1.
- Growing evidence links cadherin family members, especially protocadherins, to neuropsychiatric disorders.
Conclusions:
- Cadherins are fundamental to tissue integrity and function, with mutations leading to diverse pathologies.
- Specific cadherins are implicated in mechanotransduction in the auditory system and synaptic processes.
- Further research into cadherins is crucial for understanding and treating a range of human diseases.
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