RESUMO
Butyrate is the main product of colonic and cecal microbiota in the fermentation of dietary fiber and some amino acids, which can reduce intestinal inflammation, regulate the balance of intestinal flora, and improve intestinal mucosal barrier. In recent years, a large number of studies at home and abroad have shown that butyrate plays a role in intestinal diseases such as inflammatory bowel disease, irritable bowel syndrome, intestinal ischemia-reperfusion injury, colorectal cancer and short bowel syndrome. This article reviewed the research progress on role and mechanism of butyrate in intestinal diseases.
RESUMO
<p><b>OBJECTIVE</b>To analyze the clinical and genetic features of a family with Parkinson's disease caused by expansion of CAG triplet repeat in the ATXN2 gene.</p><p><b>METHODS</b>The CAG/CAA repeat in the ATXN2 gene was analyzed by polymerase chain reaction (PCR) and Sanger sequencing.</p><p><b>RESULTS</b>Molecular testing has documented a pathological heterozygous expansion of the CAG repeat from 33 to 35 in 6 patients and other 8 family members. Two patients had pure CAG triplet repeat expansion in their ATXN2 gene, while others had CAA interruption.</p><p><b>CONCLUSION</b>Expanded CAG/CAA repeat in the ATXN2 gene is the causative mutation of the disease in this family.The 8 members with expanded CAG/CAA repeat may be asymptomatic patients. It is supposed that the number and configuration of the ATXN2 CAG/CAA repeat expansion may play an important role in the phenotypic variability of Parkinson's disease.</p>