Theodore Woodward Award. Pathogenesis of biochemical abnormalities in protoporphyria.
In summary, FC gene mutations in patients with protoporphyric liver disease typically cause major structural alterations in the FC protein. However, the gene mutations by themselves do not satisfactorily account for the severe phenotype, as the same mutations are found in asymptomatic family members, and similar mutations are found in patients who do not develop liver disease. Thus there may be unidentified factors in the FC gene locus, or factors outside the locus, which are also important in determining the degree of protoporphyrin accumulation that occurs in an individual patient, hence, the potential for developing significant liver disease. Further studies are needed to clarify this possibility and identify those factors.
Bloomer
J R
JR
Department of Medicine, University of Alabama at Birmingham, USA.
Poh-Fitzpatrick
M B
MB
D001363:Awards and Prizes; D004252:DNA Mutational Analysis; D005260:Female; D005294:Ferrochelatase / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D011164:Porphyrias / Q000209:etiology* / Q000235:genetics / Q000378:metabolism*; D011166:Porphyrins / Q000378:metabolism; D046351:Protoporphyria, Erythropoietic; D012955:Societies, Medical; D014481:United States
D011166:Porphyrins; D005294:Ferrochelatase