In vivo adenine base editing reverts C282Y and improves iron metabolism in hemochromatosis mice
نویسندگان
چکیده
Hereditary Hemochromatosis (HH) is one of the most common genetic diseases in Caucasian population, with a prevalence 1:200/400. Among four different types, form Type 1, homozygous p.C282Y variant HFE gene, which guanosine replaced by an adenosine (c.845 G>A). This results misfolding protein, can no longer reach cell membrane hepatocytes, thereby losing its ability to work as sensor for iron content bloodstream. ultimately causes accumulation various organs, mostly liver, heart and pancreas, thus leading development chronic diseases. A major complication represents hepatocellular carcinoma.
منابع مشابه
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ژورنال
عنوان ژورنال: Zeitschrift Fur Gastroenterologie
سال: 2023
ISSN: ['0044-2771', '1439-7803']
DOI: https://doi.org/10.1055/s-0042-1759898