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Objective To determine the role of SCN1A gene variation in the development of familial febrile seizures (FS).Methods Clinical data were collected from 8 familial FS pedigrees, and peripheral venous blood samples were collected from the probands and other available family members. All 26 coding exons and exon-intron boundaries at least 50 bases of the human SCN1A gene were amplifled by polymerase chain reaction, the products were subsequently sequenced. To novo variation, other family members were screened for the corresponding exons. Two hundred age-matched healthy children were served as normal controls. ResultsA total of 33 variations in the SCN1A gene were identifled in these families. Of these variations, one was a missense mutation; the remaining 32 variations were previously submitted as single nucleotide polymorphisms (SNPs). A c.2650G>A heterozygous missense mutation in exon 15 of the SCN1A gene found in the proband of family 4 was inherited from his father who had seizures with fever in early childhood. The c.2650G>A mutation was absent in the 400 alleles of normal controls. To the best of our knowledge, the SCN1A c.2650G>A mutation has neither been reported in the NCBI SNP database nor in the literature to date. The c.2650G>A mutation changes a glycine at amino acid 884 in the SCN1A protein to a serine (p.Gly884Ser). Protein sequence analysis showed that the p.Gly884Ser is located at a highly conserved region between the 4th and 5th transmembrane segment of the homologous domain Ⅱ of voltage-gated sodium channel 1 subunit (DIIS4-S5). ConclusionsThe pathogenesis of familial febrile seizures was related to the SCN1A variation, the mutation outside the region of the voltage sensor (S4) and ion channel pore (S5-S6) of the voltage gated sodium channelα-subunit may be an important factor to cause mild phenotype epilepsy syndrome.

7.Directional cartilage scaffold for the repair of articular cartilage injury caused by exercise

Xia ZHAO ; Qiulin GUO

Chinese Journal of Tissue Engineering Research 2017;21(2):209-214

BACKGROUND:Cartilage scaffold plays an important role in articular cartilage injury, but it is stil restricted in practice, leading to the repair failure using tissue-engineered cartilage. OBJECTIVE:To explore the preparation method of cartilage scaffold with directional structure and its repairing effect in cartilage injury of rabbits. METHODS:Directional cartilage scaffolds were prepared by temperature gradient induced phase separation technique. The cross-linking of cartilage scaffold was completed with genipin. The physical and mechanical properties of scaffolds were determined. Forty-eight white rabbits were modeled into exercised-induced articular cartilage injury and equivalently randomized into two groups, fol owed by implantation of non-directional or directional scaffolds. Samples were col ected at postoperative 6, 12 and 24 weeks to compare the repair effect of two scaffolds on rabbit joint injury. RESULTS AND CONCLUSION:Scanning electron microscope showed that the regular microstructures on the longitudinal section of directional scaffolds were aligned in the same direction, while the longitudinal and transverse planes of the non-directional scaffolds showed porous honeycomb structures. The elastic modulus of the directional scaffold was significantly higher than that of the non-directional scaffold (P<0.05). O’Driscol histological scores in the directional scaffold group were significantly higher than those in the non-directional scaffold group at 6, 12 and 24 weeks postoperatively (P<0.05). At postoperative 24 weeks, in the directional scaffold group, the three-dimensional reconstruction of the rabbit defect region was flat and smooth, and coronal two-dimensional scanning showed the cartilage thickness of the newborn cartilage was very close to that of the normal bone;the cartilage surface in the non-directional rabbits was flat under three-dimensional CT, and coronal two-dimensional scanning showed that the repaired cartilage was almost the same as the normal cartilage. Hematoxylin-eosin staining showed that at 24 weeks postoperatively, the defect site disappeared and the cartilage cel s arranged in the vertical direction in the directional scaffold group. There were typical cartilage lacunae at the defect site in the non-directional scaffold group at 24 weeks postoperatively. Our findings suggest that the directional cartilage scaffold prepared using temperature gradient induced phase separation technique holds good physical and mechanical properties, and its implantation into the rabbit articular cartilage injury induced by exercise can promote the injury repair to obtain ideal mechanical properties.

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