From chemistry to genomics: A concise history of the porphyrias.

Autor: Badminton MN; School of Medicine, Cardiff University, Cardiff, UK., Anderson KE; Division of Gastroenterology and Hepatology, Department of Internal Medicine, University of Texas Medical Branch, Galveston, Texas, USA., Deybach JC; French Porphyria Reference Center (CRMR Porphyries France), University Paris, Paris, France., Harper P; Department of Medical Biochemistry and Biophysics, Centre for inherited Metabolic Diseases, Porphyria Centre Sweden, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden., Sandberg S; Department of Medical Biochemistry and Biophysics, Centre for inherited Metabolic Diseases, Porphyria Centre Sweden, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.; Department of Medical Biochemistry and Pharmacology, Norwegian Porphyria Centre, Haukeland University Hospital, Bergen, Norway.; Norwegian Organization for Quality Improvement of Laboratory Examinations (Noklus), Haraldsplass Deaconess Hospital, Bergen, Norway.; Institute of Public Health and Primary Health Care, University of Bergen, Bergen, Norway., Elder GH; School of Medicine, Cardiff University, Cardiff, UK.
Jazyk: angličtina
Zdroj: Liver international : official journal of the International Association for the Study of the Liver [Liver Int] 2024 Sep; Vol. 44 (9), pp. 2144-2155. Date of Electronic Publication: 2024 May 20.
DOI: 10.1111/liv.15960
Abstrakt: We describe developments in understanding of the porphyrias associated with each step in the haem biosynthesis pathway and the role of individuals whose contributions led to major advances over the past 150 years. The first case of erythropoietic porphyria was reported in 1870, and the first with acute porphyria in 1889. Photosensitisation by porphyrin was confirmed by Meyer-Betz, who self-injected haematoporphyrin. Günther classified porphyrias into haematoporphyria acuta, acuta toxica, congenita and chronica. This was revised by Waldenström into porphyria congenita, acuta and cutanea tarda, with the latter describing those with late-onset skin lesions. Waldenström was the first to recognise porphobilinogen's association with acute porphyria, although its structure was not solved until 1953. Hans Fischer was awarded the Nobel prize in 1930 for solving the structure of porphyrins and the synthesis of haemin. After 1945, research by several groups elucidated the pathway of haem biosynthesis and its negative feedback regulation by haem. By 1961, following the work of Watson, Schmid, Rimington, Goldberg, Dean, Magnus and others, aided by the availability of modern techniques of porphyrin separation, six of the porphyrias were identified and classified as erythropoietic or hepatic. The seventh, 5-aminolaevulinate dehydratase deficiency porphyria, was described by Doss in 1979. The discovery of increased hepatic 5-aminolaevulinate synthase activity in acute porphyria led to development of haematin as a treatment for acute attacks. By 2000, all the haem biosynthesis genes were cloned, sequenced and assigned to chromosomes and disease-specific mutations identified in all inherited porphyrias. These advances have allowed definitive family studies and development of new treatments.
(© 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
Externí odkaz: