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Objective: To explore the relationship among somatostatin (SS), neuron-specific enolase (NSE) and early vascular dementia.Methods: A total of 40 patients with early vascular dementia treated in our hospital were selected as vascular dementia group, another 40 inpatients with cerebral infarction (CI) treated during the same period were enrolled as CI group.Plasma NSE and SS levels were compared between two groups during different periods.Results: Compared with CI group at onset, one month and three months after CI, there was significant rise in plasma NSE level[(22.08±7.05) ng/ml vs.(26.39±6.80) ng/ml, (23.92±4.25) ng/ml vs.(28.12±4.06) ng/ml, (25.55±4.72) ng/ml vs.(30.10±4.33) ng/ml], and significant reduction in plasma SS level[(1084.50±133.00) ng/ml vs.(748.30±129.10) ng/ml, (836.40±160.20) ng/ml vs.(624.25±140.50) ng/ml, (690.25±146.30) ng/ml vs.(432.70±151.00) ng/ml]in vascular dementia group, P<0.05 or <0.01.Plasma NSE level gradually rose and SS level gradually reduced along with the time went by(P<0.05 or <0.01).Conclusion: Early dynamic detection of somatostatin and neuron-specific enolase levels in patients with cerebral infarction may help to early diagnosing and treatment of vascular dementia.
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Objective To study the sequence and structure of intron 8 in WD gene in order to further understand the relationship between intron 8 and WD. Methods We utilized polymerase chain reaction (PCR) to the amplification of exon 8-intron 8-exon 9 which were then sequenced by a dideoxy chain termination methon in 10 normal controls and 32 members of 11 families(20 WD patients and 10 of their relative). The results were analyzed by the computer. Results The sequence of intron 8 was 703 bp with the G + C content of 42.7%. There were one short tandom repeats, 7 direct and inverted repeats in it. An open reading frame coded with 82aa was found at 323 base pairs of downstream of a TATAbox. There were two DNA polymorphisms at 408 and 487 nucleotides. The sequence analysis showed that the 5end has the sequence of 5-GTAAC, 3end has the sequence of CCTAG-3, and branchpoint of 5-TTTCGA-3.Conclusions The sequences and structures of intron 8 in WD familiess members are not different from normal controls. Our data suggest that the WD gene intron 8 might not play an important role in the pathogenesis of WD.
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Objective Determination of Wilson disease gene mRNA expression in human fibroblast cell strain (Me32aT22/2L) by reverse transcription-polymerase chain reaction (RT-PCR). Methods Using lipofection reagent, the plasmid vector carrying the Wilson disease gene (pRc/CMV-WD) was transferred into Me32aT22/2L cultured in serum free complement medium. RT-PCR was used to determine WD mRNA expression in Me32aT22/2L. Results Wilson disease gene expression was detected in Me32aT22/2L, while no specific signals were detected in untransfected fibroblast. Conclusions It demonstrated that Me32aT22/2L strain could express the Wilson disease gene, suggesting that Wilson disease gene transfer might develop a new approach to study Wilson disease.
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Objective To screen polymorphisms and mutations in the promoter region of WD gene.Methods DNA from peripheral blood was obtained from 71 subjects of 36 family (48 WD patients,23 patients first-degree relatives) and 20 healthy people from Feb.2001 to Feb.2004.DNA sequence of the genes was analyzed by PCR amplification and direct genomic sequencing.Results There were three polymorphisms at positions-190,-78,+260(transcription start site as +1) of the promoter region of WD gene.Normal controls,WD patients and patients’ first-degree relatives all showed the polymorphisms;three of 48 WD patients presented C→T base substitution mutations at the same position -183:two were homozygous mutation,while the other was heterozygous.Normal control subjects and patients' relatives didn’t show this kind of mutation.Conclusion It suggests that the mutation of the promoter region is one of WD pathogenesis.