Unequal Effects of Myosin 5B Mutations in Liver and Intestine Determine the Clinical Presentation of Low‐Gamma‐Glutamyltransferase Cholestasis
| العنوان: | Unequal Effects of Myosin 5B Mutations in Liver and Intestine Determine the Clinical Presentation of Low‐Gamma‐Glutamyltransferase Cholestasis |
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| المؤلفون: | Jian-She Wang, Sven C.D. van IJzendoorn, Qinghong Li, Arend W. Overeem, Yi-Ling Qiu |
| المصدر: | Hepatology (Baltimore, Md.) |
| بيانات النشر: | Ovid Technologies (Wolters Kluwer Health), 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Cell type, Malabsorption, Genotype, Myosin Type V, CHILDREN, Disease, Concise Reviews, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Malabsorption Syndromes, Cholestasis, Mucolipidoses, Internal medicine, Myosin, medicine, FAILURE, Humans, Intestinal Mucosa, Gamma-glutamyltransferase, Enterohepatic circulation, RAB11A, BILE-ACIDS, Microvilli, Myosin Heavy Chains, Hepatology, biology, Concise Review, business.industry, MYO5B MUTATIONS, ABC TRANSPORTER, MICROVILLUS INCLUSION DISEASE, gamma-Glutamyltransferase, medicine.disease, GENE, respiratory tract diseases, VB, Diarrhea, 030104 developmental biology, Liver, Mutation, biology.protein, 030211 gastroenterology & hepatology, medicine.symptom, business |
| الوصف: | Mutations in the MYO5B gene cause in some patients low gamma-glutamyltransferase (low-GGT) cholestatic liver disease (CLD) and in other patients microvillus inclusion disease (MVID, a congenital diarrheal and malabsorption disorder). Overlap of symptoms occurs but more MVID patients present cholestasis than CLD patients present diarrhea. Clinical observations indicate that MYO5B mutations can cause but also protect against CLD. This complicates family counseling and therapeutic decisions. Here we have reviewed the literature on MYO5B mutations in relation to CLD. It appears that variations in the clinical presentation of low-GGT CLD can be attributed to the coincident expression but unequal effects of MYO5B mutations in hepatocytes versus enterocytes, two cell types that jointly constitute the core of the enterohepatic circulation. Therefore, contrasting other low-GGT CLDs, those associated with MYO5B mutations should be viewed as a disease of the enterohepatic circulation rather than solely of the liver. |
| تدمد: | 1527-3350 0270-9139 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a49b362a3c82f65f030779c1748cab7Test https://doi.org/10.1002/hep.31430Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....2a49b362a3c82f65f030779c1748cab7 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15273350 02709139 |
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