| 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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MedLine Citation:
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PMID: 18031367 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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 alpha-subunit of the mitochondrial tri-functional protein and catalyzes the third step in the beta-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. |
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Authors:
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Xiao-Fei Kong; Xin-Xin Zhang; Ying-Yan Yu; Qing Shi; Duan-Duan La; Chuan-De Zhu-Ge; Lin Deng; Qi-Ming Gong; Bai-Yong Shen; Cheng-Hong Peng; Hong-Wei Li |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Journal of gastroenterology and hepatology Volume: 22 ISSN: 0815-9319 ISO Abbreviation: J. Gastroenterol. Hepatol. Publication Date: 2007 Dec |
Date Detail:
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Created Date: 2007-11-22 Completed Date: 2008-03-27 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8607909 Medline TA: J Gastroenterol Hepatol Country: Australia |
Other Details:
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Languages: eng Pagination: 2107-11 Citation Subset: IM |
Affiliation:
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Department of Infectious Disease, Ruijin Hospital, Medical Scool of Shanghai Jiaotong University, Shanghai, China. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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3-Hydroxyacyl CoA Dehydrogenases
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genetics Adult Carnitine / analogs & derivatives, chemistry, metabolism Cytosine Family* Fatty Liver / complications*, genetics*, pathology Female Guanine Humans Mass Spectrometry Multienzyme Complexes / genetics* Mutation / genetics* Polymorphism, Restriction Fragment Length Pregnancy Pregnancy Complications / genetics* Protein Subunits / genetics* Sequence Analysis, DNA |
| Chemical | |
Reg. No./Substance:
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0/Multienzyme Complexes; 0/Protein Subunits; 0/acylcarnitine; 0/fatty acid beta-oxidation multienzyme complex; 541-15-1/Carnitine; 71-30-7/Cytosine; 73-40-5/Guanine; EC 1.1.1.211/long-chain 3-hydroxyacyl CoA dehydrogenase; EC 1.1.1.35/3-Hydroxyacyl CoA Dehydrogenases |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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