Models of Congenital Adrenal Hyperplasia for Gene Therapies Testing

• Published in: International journal of molecular sciences Vol. 24; no. 6; p. 5365
• Main Authors: Glazova, Olga, Bastrich, Asya, Deviatkin, Andrei, Onyanov, Nikita, Kaziakhmedova, Samira, Shevkova, Liudmila, Sakr, Nawar, Petrova, Daria, Vorontsova, Maria V, Volchkov, Pavel
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 01-03-2023; MDPI
• Subjects: Abnormalities; adrenal cortex; Adrenal Glands; Adrenal Hyperplasia, Congenital - diagnosis; Adrenal Hyperplasia, Congenital - genetics; Adrenal Hyperplasia, Congenital - therapy; Adrenogenital syndrome; Body fat; Bone marrow; CAH; cell differentiation; Congenital diseases; Disease; Drugs; Enzymes; Gene expression; Gene therapy; Genes; Genetic disorders; Hereditary diseases; Hormone replacement therapy; Hormone therapy; Humans; Hyperplasia; Incidence; Infant, Newborn; murine models; Mutation; Neonates; organoids; Physiology; Review; Stem cells; steroidogenic factor 1; Steroids; Stress response; Testosterone; Umbilical cord; cell differentiation; single cell RNA sequencing; murine models; organoids; CAH; adrenal cortex; steroidogenic factor 1
• ISSN: 1422-0067; 1661-6596; 1422-0067
• DOI: 10.3390/ijms24065365

The adrenal glands are important endocrine organs that play a major role in the stress response. Some adrenal glands abnormalities are treated with hormone replacement therapy, which does not address physiological requirements. Modern technologies make it possible to develop gene therapy drugs that can completely cure diseases caused by mutations in specific genes. Congenital adrenal hyperplasia (CAH) is an example of such a potentially treatable monogenic disease. CAH is an autosomal recessive inherited disease with an overall incidence of 1:9500-1:20,000 newborns. To date, there are several promising drugs for CAH gene therapy. At the same time, it remains unclear how new approaches can be tested, as there are no models for this disease. The present review focuses on modern models for inherited adrenal gland insufficiency and their detailed characterization. In addition, the advantages and disadvantages of various pathological models are discussed, and ways of further development are suggested.