Prevalence of the serpin peptidase inhibitor (alpha-1-antitrypsin) PI*S and PI*Z alleles in Brazilian children with liver disease

Abstract

Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1) deficiency is one of the main genetic causes related to liver disease in children. In SERPINA1 deficiency the most frequent SERPINA1 alleles found are the PI*S and PI*Z alleles. We used the polymerase chain reaction and the amplification created restriction site (ACRS) technique to investigate the prevalence of the PI*S and PI*Z alleles in a group of Brazilian children (n = 200) with liver disease and established the general frequency of the PI*S allele in our population. We found a significant association of the PI*Z allele and liver disease, but no such relationship was found for the PI*S allele. Our results show that SERPINA1 deficiency due to the PI*Z allele, even when heterozygous, is a frequent cause of liver disease in our group of Brazilian children but that the PI*S allele does not confer an increased risk of hepatic disorders in our group of Brazilian children

Bone Marrow Cells Reduce Collagen Deposition in the Rat Model of Common Bile Duct Ligation

“…This process is mediated mainly by activated hepatic stellate cells (HSC) undergoing a phenotypic switch from a quiescent vitamin A storing phenotype to a proliferative myofibroblast-like cell [1]. Cirrhosis represents a serious worldwide health care problem and may be caused by genetic disorders [2], viruses [3], toxins [4], auto-immune [5,6], and cholestatic diseases [7]. Liver transplantation is a highly successful treatment for end-stage cirrhosis, with a 5-year survival rate of around 70%.…”