No mutation was found in the alpha-subunit of the mitochondrial tri-functional protein in one patient with severe acute fatty liver of pregnancy and her relatives
| العنوان: | No mutation was found in the alpha-subunit of the mitochondrial tri-functional protein in one patient with severe acute fatty liver of pregnancy and her relatives |
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| المؤلفون: | Ying-Yan Yu, Xiao-Fei Kong, Qi-Ming Gong, Duan-Duan La, Baiyong Shen, Chenghong Peng, Xinxin Zhang, Hong-Wei Li, Lin Deng, Chuan-De Zhu-Ge, Qing Shi |
| المصدر: | Journal of Gastroenterology and Hepatology. 22:2107-2111 |
| بيانات النشر: | Wiley, 2007. |
| سنة النشر: | 2007 |
| مصطلحات موضوعية: | Adult, Proband, Guanine, Biology, Mass Spectrometry, Acute fatty liver of pregnancy, law.invention, Cytosine, Exon, Multienzyme Complexes, Pregnancy, law, Carnitine, medicine, Humans, Family, Gene, Polymerase chain reaction, Genetics, Hepatology, Mitochondrial Trifunctional Protein, Fatty liver, Gastroenterology, 3-Hydroxyacyl CoA Dehydrogenases, Sequence Analysis, DNA, medicine.disease, Fatty Liver, Pregnancy Complications, Protein Subunits, Mutation, Female, Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase, Amplified fragment length polymorphism, Restriction fragment length polymorphism, Polymorphism, Restriction Fragment Length |
| الوصف: | Background and Aim: Acute fatty liver of pregnancy (AFLP) is a serious hepatic disorder and a devastating late gestational complication associated with substantial maternal and neonatal morbidity and mortality. Several studies have demonstrated a strong association between AFLP in the mother and fetal deficiency of the enzyme long-chain L-3 hydroxyacyl-CoA dehydrogenase (LCHAD). LCHAD resides in the α-subunit of the mitochondrial tri-functional protein and catalyzes the third step in the β-oxidation of fatty acids in the mitochondria. The aim of this study was to determine in one patient with severe AFLP who survived liver transplantation, if the infant or her parents would bear the common or rare mutation of the LCHAD gene. Methods: Genomic DNA was extracted from the patient with severe AFLP and her daughter and parents. Exon 15 of LCHAD was amplified by polymerase chain reaction (PCR) and analyzed by restricted fragment length polymorphism (RFLP) with Pst-I. The whole coding region of LCHAD cDNA of all subjects was amplified and sequenced for the potential rare mutation. Results: None of the subjects had the G1528C mutation in the LCHAD gene. None of the subjects had mutation in the whole coding region of LCHAD or rare polymorphisms. Conclusions: Although this study was limited to one proband and her relatives, our observations suggest that there might be diverse etiological factors in China contributing to AFLP other than the frequently reported mutation in the LCHAD, and the metabolic basis for AFLP may be more heterogeneous than previously believed. |
| تدمد: | 1440-1746 0815-9319 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6ba12b88dc94f608952be1d427780e7 https://doi.org/10.1111/j.1440-1746.2006.04682.x |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi.dedup.....e6ba12b88dc94f608952be1d427780e7 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14401746 08159319 |
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