HEREDITARY DISORDERS OF ELASTIN FIBER DEVELOPMENT

Background. Connective tissue dysplasias are quite common among the population and are often accompanied by developmental disorders of the skeleton, visual organs, the dental system, neuromuscular and cardiovascular pathologies, etc. The prevalence of hereditary elastinopathies in some populations averages from 10 to 30 %. Clinical and molecular genetic diagnostics are key aspects in recognizing elastinopathies. Underestimating abnormalities in elastin fiber development leads to long-term complications and a reduced quality of life for patients.

Aim: To analyze the molecular genetic and clinical manifestations of elastinopathies.

Materials and methods. An analysis of literature and scientific citation databases was conducted (online Mendelian Inheritance in Man, Database of Genotypes and Phenotypes, GeneCards (an integrated database providing detailed genomic, proteomic, transcriptomic, and genetic information about human genes), and GenBank (an open database containing all annotated gene sequences).

Results. It was shown that diseases associated with impaired elastin tissue development are caused by a number of genes, such as ELN, FBN1–FBN3, FBLN1–FBLN7, TGF-β, TGFBI, TBP1–LTBP4, MFAP1–MFAP4, LOX, LOX1, EMILIN1–EMILIN2, VCAN and HSPG2. Elastinopathies typically have a polymorphic clinical picture and are systemic in nature. Most hereditary diseases of elastin fibers manifest as skeletal dysplasias. Cardiovascular anomalies, eye and skin diseases. The clinical presentation of these diseases often has similar symptoms and requires differential diagnosis. Therefore, molecular genetic confirmation of the diagnosis is an important aspect in the diagnosis of elastinopathies.

Conclusion. Disorders of elastin fiber development often remain undifferentiated. Clinical and molecular genetic diagnosis of elastinopathies is an important aspect of providing medical care to patients with this pathology. Systematization of the phenotypic manifestations and molecular genetic basis of elastinopathies is necessary for the successful prevention of the long-term consequences of these diseases.

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