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Article ID: CBB053044669

La malattia genetica come eccezione alla regola (2017)

Dianzani, Irma (Author)

Mefisto: Rivista di medicina, filosofia, storia
Volume: 1
Issue: 1
Pages: 193-209

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Medicine Pathology Embryology Methodology Microbiology Hereditary diseases Genetics 21st century

This paper discusses the exception to the rule in the context of inherited disease. Inherited monogenic diseases are due to a rare mutation that disrupts the function of a single gene. Thus, although rare, they may give important hints to interpret the function of human genes. This paper considers two inherited syndromes, characterised by abnormal development of the hand, Ectrodactyly-Ectodermal dysplasia-Cleft lip/palate (EEC) syndrome and Diamond Blackfan Anemia (DBA), due to mutations in TP63 and ribosomal protein genes, respectively. The discovery of TP63 mutations as the cause of EEC has shed light on the embryogenesis of the upper limb and specific aspects of carcinogenesis. Conversely, the identification of the genes responsible for DBA has identified for the first time ribosomal stress as a new disease mechanism, that is involved in embryogenesis and carcinogenesis. In both cases the study of a rare genetic disease has helped in the understanding of important biological processes.

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