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首页> 外文期刊>World Journal of Gastroenterology >Analysis of ileal sodium/bile acid cotransporter and related nuclear receptor genes in a family with multiple cases of idiopathic bile acid malabsorption.
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Analysis of ileal sodium/bile acid cotransporter and related nuclear receptor genes in a family with multiple cases of idiopathic bile acid malabsorption.

机译：多发性特发性胆酸吸收不良的家庭中回肠钠/胆汁酸共转运蛋白和相关核受体基因的分析。

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The etiology of most cases of idiopathic bile acid malabsorption (IBAM) is unknown. In this study, a Swedish family with bile acid malabsorption in three consecutive generations was screened for mutations in the ileal apical sodium-bile acid cotransporter gene (ASBT; gene symbol, SLC10A2) and in the genes for several of the nuclear receptors known to be important for ASBT expression: the farnesoid X receptor (FXR) and peroxisome proliferator activated receptor alpha (PPARalpha). The patients presented with a clinical history of idiopathic chronic watery diarrhea, which was responsive to cholestyramine treatment and consistent with IBAM. Bile acid absorption was determined using (75)Se-homocholic acid taurine (SeHCAT); bile acid synthesis was estimated by measuring the plasma levels of 7alpha-hydroxy-4-cholesten-3-one (C4). The ASBT, FXR, and PPARalpha genes in the affected and unaffected family members were analyzed using single stranded conformation polymorphism (SSCP), denaturing HPLC, and direct sequencing. No ASBT mutations were identified and the ASBT gene did not segregate with the bile acid malabsorption phenotype. Similarly, no mutations or polymorphisms were identified in the FXR or PPARalpha genes associated with the bile acid malabsorption phenotype. These studies indicate that the intestinal bile acid malabsorption in these patients cannot be attributed to defects in ASBT. In the absence of apparent ileal disease, alternative explanations such as accelerated transit through the small intestine may be responsible for the IBAM.
机译：大多数特发性胆酸吸收不良（IBAM）的病因尚不清楚。在这项研究中，筛选了一个连续三个世代中胆汁酸吸收不良的瑞典家庭，以寻找回肠顶胆钠胆酸共转运蛋白基因（ASBT；基因符号，SLC10A2）和几个已知核受体基因的突变。对于ASBT表达很重要：法呢素X受体（FXR）和过氧化物酶体增殖物激活的受体α（PPARalpha）。这些患者表现出特发性慢性水样腹泻的临床病史，对胆甾醇胺治疗有反应，并与IBAM一致。胆汁酸的吸收用（75）Se-高硼酸牛磺酸（SeHCAT）测定。通过测量7α-羟基-4-胆甾烯-3-酮（C4）的血浆水平来估计胆汁酸的合成。使用单链构象多态性（SSCP），变性HPLC和直接测序分析了受影响和未受影响家庭成员中的ASBT，FXR和PPARalpha基因。未鉴定出ASBT突变，且ASBT基因未与胆汁酸吸收不良表型分离。同样，在与胆汁酸吸收不良表型相关的FXR或PPARalpha基因中未发现突变或多态性。这些研究表明，这些患者的肠道胆汁酸吸收不良不能归因于ASBT缺陷。在没有明显回肠疾病的情况下，IBAM可能是替代解释，例如通过小肠的加速转运。

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