Despite being a promising butyrate carrier, butyrylated starch remains poorly understood in terms of the correlation between starch structure and fermentation characteristics. Herein, three butyrylated starches derived from different botanical sources were prepared with a similar degree of substitution. Raman microscopy and water contact angle analysis suggested that a relatively large proportion of butyl group substitutions occurred within the interior of butyrylated waxy maize starch (B-WMS) granules. In vitro digestion results showed that branch points provided butyl groups with a specific protection from enzymatic hydrolysis, whereas butyl groups significantly increased the resistant starch content of butyrylated starch. Moreover, the porous morphology with less distributed butyl groups on the granular surface contributed to a faster fermentation rate in B-WMS. The current study reveals the influence of botanical origin on butyl group distribution, which in turn plays a pivotal role in regulating the intestinal digestion and colonic fermentation of butyrylated starch.
Mutations in the F11 gene can cause factor XI (FXI) deficiency, leading to abnormal coagulation activity and injury-related bleeding tendency. Therefore, identifying F11 gene mutations and studying the molecular basis will help us understand the pathogenesis of FXI deficiency.Coagulation tests and gene sequencing analysis of all members were performed. FXI wild-type and mutant expression plasmids were constructed and transfected into HEK293FT cells. The FXI protein expression level was evaluated by ELISA and Western blot.The FXI activity (FXI:C) and FXI antigen (FXI:Ag) of proband-1 were decreased to 2% and 5%, respectively. FXI:C and FXI:Ag of proband-2 were reduced to 15% and 32%, respectively. Four mutations were found in the two unrelated families, including c.536C>T (p.T179M), c.1556G>A (p.W519*), c.434A>G (p.H145R), and c.1325_1325delT (p.L442Cfs*8). In vitro studies in transiently transfected HEK293FT cells demonstrated that p.T179M, p.W519*, and p.L442Cfs*8 mutations significantly lowered the FXI levels in the culture media. The FXI levels in the culture media and cell lysates of p.H145R mutation were similar to the wild type.Our results confirm that the four mutations in the F11 gene are causative in the 2 FXI deficiency families. Moreover, the p.H145R mutation is a cross-reactive material (CRM)-positive phenotype. The other three mutations are CRM-negative phenotypes and lead to FXI protein secretion disorder.
Congenital thrombotic thrombocytopenic purpura (TTP) is rare and is prone to misdiagnosis or missed diagnosis in clinical. The relationship between genotype and phenotype needs further study.A 15-hour-old Chinese girl develops jaundice. Her platelet counts suddenly decreases with bleeding spots on the left side of chest, upper abdomen, and bilateral groin on the fourth day after birth. The plasma ADAMTS13 activity and inhibitor are detected by residual collagen binding assay. ADAMTS 13 gene is detected by next generation sequencing.The plasma ADAMTS13 activity of the patient is shown to be severely deficient, but without inhibitor. Gene sequencing analysis shows that the patient carries a compound heterozygote mutation of ADAMTS13 gene, one is c.1564T>C, p.(Cys522Arg) on exon 13 of the ADAMTS13 gene, a heterozygote missense mutation. It is identified as a de novo suspected pathological variation. The other is c.330+1G>A on intron 3 of the ADAMTS13 gene, a heterozygote splicing mutation. Her father and elder sister carry c.1564T>C, p.(Cys522Arg) on exon 13 of the ADAMTS13 gene, a heterozygote missense mutations. Her mother carries c.330+1G>A on intron 3 of the ADAMTS13 gene, a heterozygote splicing mutation.The deficiency of ADAMTS13 caused by one heterozygote missense mutation and the other heterozygote splicing mutation are responsible for the episode of this congenital TTP patient.
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