The new culprit of infant pathological jaundice was found February 14, 2017 Source: Health News Professor Wang Jianshe, a pediatric hospital affiliated to Fudan University, led Dr. Qiu Yiling and Others, and together with Professor Xing Qinghe from the Birth Defect Research Center of Fudan University Biomedical Research Institute and Professor Victor Ling from the British Columbia Cancer Institute in Canada, found the genetic hereditary cholestasis of infants. A disease-causing gene, the MYO5B gene mutation. This study is important for the accurate treatment of infant hereditary cholestasis in the future. The latest issue of the international authoritative journal "Liver" published this result online. It is reported that after 2 to 3 days of birth, the skin will appear yellow and yellow (ie, jaundice), and most of them will completely disappear within 2 weeks. If the jaundice appears within 24 hours of birth, it is too deep or deep, and it will continue to retreat or recur. It is pathological and needs timely treatment. For example, jaundice accompanied by yellow urine or white stool color must be Pathological, the manifestation of hepatobiliary disease leading to elevated blood bilirubin, medically known as infant cholestasis. Infant cholestasis is caused by obstruction of the biliary system or various intrahepatic diseases. Hereditary cholestasis caused by various genetic mutations is the second most common cause of cholestasis in infants. Clinically, according to the level of serum γ-glutamyltranspeptidase (GGT), cholestasis is further divided into low GGT and high GGT, and most of the low GGT cholestasis is caused by genetic variation. Unfortunately, the known pathogenic genes were first discovered in foreign populations. Approximately one in four people with suspected hereditary cholestasis of low GGT in our population cannot be diagnosed, suggesting that there may be other new disease genes that have not yet been discovered. The Wang Jian team developed a high-efficiency screening method that can screen for 63 known genetic mutations in hereditary cholestasis, and the cases of hereditary cholestasis that cannot be clearly identified after screening by this method. Research object. The team first screened 24 children with unexplained low GGT hereditary cholestasis from nearly 100 cases of hereditary low GGT cholestasis, and then performed whole exome sequencing. The results were in 4 families. In 5 children, the MYO5B gene was found to be homozygous or compound heterozygous double mutation, that is, the parents of 5 children did not have cholestasis, but each carried a gene mutation and passed it to the child, in line with heredity. The genetic model of recessive genetic disease in school; other healthy siblings of the child carry only one gene mutation, or do not carry the mutation of the gene, so there is no disease. Statistical analysis showed that there was a significant correlation between the double mutation of the MYO5B gene and low GGT cholestasis. Subsequently, the research team screened 7 children with unexplained low GGT hereditary cholestasis in another 39 children with low GGT cholestasis, and confirmed that 2 of them were MYO5B mutations; Subsequently, 3 children with infantile cholestasis caused by mutation of MYO5B gene were confirmed. So far, a total of 10 children with MYO5B mutation disease have been identified in this study. The cholestasis of these children is mild to severe, that is, temporary cholestasis (cholestasis is completely resolved after treatment), recurrent cholestasis (recurrence cholestasis) The cholestasis is completely resolved after treatment, recurring under certain causes) and persistent cholestasis (the cholestasis cannot be completely resolved after treatment). Further liver biopsy pathological studies found that the expression of MYO5B gene protein in liver tissue of these patients was abnormal. Thus, a series of evidence suggests that the MYO5B gene mutation is likely to be the "new culprit" that causes hereditary cholestasis. (Reporter Sun Guogen) Nucleic Acid Extraction Reagent Kit 64T(auto)
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The new culprit of infant pathological jaundice was found