RESUMO
Three new compounds, 3,6-dihydroxy-4,5-dimethoxy-1,8-naphalic anhydride (1), 3,4,5,6-tetrahydroxy-1,8-naphalic anhydride (2), and methyl (7E,9E)-6,11-dioxononadeca-7,9-dienoate (3), were isolated from the stem bark of Juglans mandshurica. Their structures were elucidated on the basis of spectroscopic evidence, including 1D and 2D NMR, HR-TOF-MS, and by comparison with the literature data.
Assuntos
Medicamentos de Ervas Chinesas/isolamento & purificação , Ácidos Graxos Insaturados/isolamento & purificação , Juglans/química , Fenalenos/isolamento & purificação , Medicamentos de Ervas Chinesas/química , Ácidos Graxos Insaturados/química , Estrutura Molecular , Ressonância Magnética Nuclear Biomolecular , Fenalenos/química , Casca de Planta/química , Caules de Planta/químicaRESUMO
Oxidative stress-induced enteric neuropathy is an important factor in slow transit constipation (STC). Cistanche deserticola crude polysaccharides (CDCP) are natural antioxidants with various biological activities. We prepared CDCP through water-extract and alcohol-precipitation methods. The structural characteristics of CDCP were analyzed by infrared spectroscopy and methylation analysis. The results showed that CDCP was primarily composed of (1 â 4)-linked glucans with minor amounts of pectic polysaccharides. Different doses of CDCP (100, 200, and 400 mg/kg) were administered to loperamide-induced STC mice to explore the therapeutic effects of CDCP. Compared with the untreated group, CDCP treatment significantly improved constipation symptoms, relevant gut-regulating peptides levels, colonic pathological damage, and colonic myenteric nerons injury. CDCP enhanced the antioxidant capacity by decreasing Malondialdehyde (MDA) content, increasing Superoxide Dismutase (SOD) activity and Reduced Glutathione (GSH) content. CDCP significantly reduced oxidative stress-induced injury by preserving mitochondrial function in the colonic myenteric plexus. Furthermore, the neuroprotective effects of CDCP might be associated with the Nrf2/Keap1 pathway. Thus, our findings first revealed the potential of CDCP to protect the colonic myenteric plexus against oxidative stress-induced damage in STC, establishing CDCP as promising candidates for natural medicine in the clinical management of STC.
Assuntos
Cistanche , Fármacos Neuroprotetores , Camundongos , Animais , Cistanche/química , Fármacos Neuroprotetores/farmacologia , Proteína 1 Associada a ECH Semelhante a Kelch/metabolismo , Fator 2 Relacionado a NF-E2/metabolismo , Constipação Intestinal/induzido quimicamente , Constipação Intestinal/tratamento farmacológico , Constipação Intestinal/metabolismo , Estresse Oxidativo , Antioxidantes/farmacologia , Antioxidantes/metabolismo , Polissacarídeos/farmacologia , Polissacarídeos/químicaRESUMO
Joubert syndrome (JS) is a rare, complex autosomal recessive inherited disorder mostly characterized by partial or complete agenesis of the cerebellar vermis. There is a wide clinical and genetic heterogeneity in the syndrome. The main clinical features of JS are hypotonia, ataxia, developmental delay, oculomotor apraxia, breathing abnormalities and peculiar neuroimaging findings. A lot of additional features have been reported. Here, we first reported a case of the syndrome with natural killer (NK) cell deficiency. NK cell deficiency in JS might be not an incidental phenomenon. NK cell deficiency might be associated with JS when there are additional features such as recurrent infections and tumors. NK cell deficiency may be part of the clinical spectrum of JS. Reduced cellular immunity in association with NK cell deficiency may be a feature in a subset of JS patients, especially if there is a history of recurrent infections, tumors and autoimmune disorders.
Assuntos
Doenças Cerebelares/complicações , Doenças Cerebelares/imunologia , Anormalidades do Olho/complicações , Anormalidades do Olho/imunologia , Síndromes de Imunodeficiência/complicações , Síndromes de Imunodeficiência/imunologia , Doenças Renais Císticas/complicações , Doenças Renais Císticas/imunologia , Células Matadoras Naturais/patologia , Retina/anormalidades , Anormalidades Múltiplas , Cerebelo/anormalidades , Feminino , Humanos , Síndromes de Imunodeficiência/patologia , Lactente , Contagem de Linfócitos , Retina/imunologiaRESUMO
OBJECTIVE: To explore the effect of abnormal miRNA expression on the proliferation of pediatric acute lymphoblastic leukemia (ALL) cells and its related mechanism. METHODS: 15 children with ALL and 15 healthy subjects were collected from the Second Affiliated Hospital of Hainan Medical University from July 2018 to March 2021. MiRNA sequencing was performed on their bone marrow cells, and validated using qRT-PCR. MiR-1294 and miR-1294-inhibitory molecule (miR-1294-inhibitor) were transfected into Nalm-6 cells, and the proliferation of Nalm-6 cells was detected by CCK-8 and colony formation assays. Western blot and ELISA were used to detect apoptosis of Nalm-6 cells. Biological prediction of miR-1294 was performed to find the target gene, which was verified by luciferase reporter assay. Si-SOX15 was transfected into Nalm-6 cells, Western blot was used to detect the expression of Wnt signaling pathway-related proteins and to verify the effect of si-SOX15 on the proliferation and apoptosis of Nalm-6 cells. RESULTS: Compared with healthy subjects, 22 miRNAs were significantly upregulated in bone marrow cells of ALL patients, of which miR-1294 was the most significantly upregulated. In addition, the expression level of SOX15 gene was significantly reduced in bone marrow cells of ALL patients. Compared with the NC group, the miR-1294 group showed increased protein expression levels of Wnt3a and ß-catenin, faster cell proliferation, and more colony-forming units, while caspase-3 protein expression level and cell apoptosis were reduced. Compared with the NC group, the miR-1294-inhibitor group showed reduced protein expression levels of Wnt3a and ß-catenin, slower cell proliferation, and fewer colony-forming units, while caspase-3 protein expression level was increased and apoptosis rate was elevated. miR-1294 had a complementary base-pair with the 3'UTR region of SOX15 , and miR-1294 directly targeted SOX15 . The expression of miR-1294 was negatively correlated with SOX15 in ALL cells. Compared with the si-NC group, the si-SOX15 group showed increased protein expression levels of Wnt3a and ß-catenin, accelerated cell proliferation, and decreased caspase-3 protein expression level and cell apoptosis rate. CONCLUSION: MiR-1294 can target and inhibit SOX15 expression, thus activating the Wnt/ß-Catenin signaling pathway to promote the proliferation of ALL cells, inhibit cell apoptosis, and ultimately affect the disease progression.
Assuntos
MicroRNAs , Leucemia-Linfoma Linfoblástico de Células Precursoras , Humanos , Criança , beta Catenina/genética , Via de Sinalização Wnt , Caspase 3/metabolismo , Linhagem Celular Tumoral , MicroRNAs/genética , Proliferação de Células , Apoptose , Fatores de Transcrição SOX/genética , Fatores de Transcrição SOX/metabolismoRESUMO
In the present study, the 26-residue amphipathic α-helical peptide A12L/A20L (Ac-KWKSFLKTFKSLKKTVLHTLLKAISS-amide) with strong anticancer activity and specificity was used as the framework to study the effects of helicity of α-helical anticancer peptides on biological activities. Helicity was systematically modulated by introducing d-amino acids to replace the original l-amino acids on the non-polar face or the polar face of the helix. Peptide helicity was measured by circular dichroism spectroscopy and was demonstrated to correlate with peptide hydrophobicity and the number of d-amino acid substitutions. Biological studies showed that strong hemolytic activity of peptides generally correlated with high hydrophobicity and helicity. Lower helicity caused the decrease of anti-HeLa activity of peptides. By introducing d-amino acids to replace the original l-amino acids on the non-polar face or the polar face of the helix, we improved the therapeutic index of A12L/A20L against HeLa cells by 9-fold and 22-fold, respectively. These results show that the helicity of anticancer peptides plays a crucial role for biological activities. This specific rational approach of peptide design could be a powerful method to improve the specificity of anticancer peptides as promising therapeutics in clinical practices.
Assuntos
Antineoplásicos/química , Química Farmacêutica/métodos , Peptídeos/química , Estrutura Secundária de Proteína , Sequência de Aminoácidos , Aminoácidos/química , Peptídeos Catiônicos Antimicrobianos/química , Cátions , Dicroísmo Circular , Desenho de Fármacos , Ensaios de Seleção de Medicamentos Antitumorais , Eritrócitos/efeitos dos fármacos , Células HeLa , Hemólise/efeitos dos fármacos , Humanos , Interações Hidrofóbicas e Hidrofílicas , Concentração Inibidora 50 , Dados de Sequência Molecular , Estrutura Terciária de Proteína , Homologia de Sequência de AminoácidosRESUMO
As one of raw materials, the rhizome of Imperata cylindrica var. major (Nees) C.E. Hubb. is used in kinds of preparations curing inflammation related diseases, while its effective substances are not yet clear. In this paper, its chemical constituents and their anti-inflammatory activities were investigated. As results, ten compounds, named as imperphenoside A (1), imperphenols B (2) and C (3), imperphenosides D-F (4-6), and imperlignanosides A-D (7-10), along with previously reported thirty-seven known ones (11-47) were obtained from it. Their structures were ascertained basing on the extensive spectroscopic methods and electronic circular dichroism data analysis. Meanwhile, compounds 4, 11, 12, 24, 27, 31, 32, 37, 43, 45, and 47 exhibited nitric oxide inhibitory effects in concentration dependent at 3, 10, and 30 µM on lipopolysaccharides induced RAW 264.7 cells. Moreover, the western blot analysis indicated that compounds 4, 11, 43, and 47 could restrain the phosphorylation of nuclear factor kappa-B kinase to down-regulate the protein expression of inflammatory cytokines such as inducible nitric oxide synthase, interleukin-6 and tumor necrosis factor-α. In conclusion, they might play the anti-inflammatory effects through regulating NF-κB signaling pathway.
Assuntos
Poaceae , Rizoma , Animais , Anti-Inflamatórios/química , Anti-Inflamatórios/farmacologia , Lipopolissacarídeos/farmacologia , Camundongos , NF-kappa B/metabolismo , Óxido Nítrico/metabolismo , Óxido Nítrico Sintase Tipo II/metabolismo , Poaceae/química , Células RAW 264.7 , Rizoma/químicaRESUMO
Circular RNA (circRNAs) functions vital in the pathogenesis and progression of hepatocellular carcinoma (HCC). However, the expressions and functions of certain circRNAs on metastasis and proliferation of that cancer is still unclear. Bioinformation analysis and qRT-PCR indicated that CircC16orf62 was prominent upregulated in HCC of which the expression level was positively associated to cancer's malignant progression. Gain or loss-of-function studies indicated that the reduction of CircC16orf62 expression promotes the proliferation, invasion, and glycolysis of HCC in vitro and in vivo. The bioinformatic analysis found that miR-138-5p and PTK2 were the downstream target of CircC16or62. Then, the FISH(Fluorescence immunoin situ hybridization) and cell nucleoplasmic separation determined that CircC16orf62 located in the cell cytoplasm. Plasmid vectors or siRNAs were used to change the expression of CircC16orf62, miR-138-5p, and PTK2 in PC cell lines. CircC16orf62 functioned as a molecular sponge for miR-138-5p, and a competitive endogenous RNA for PTK2, promoting AKT/mTOR pathway activation. Our observations lead us to conclude that CircC16orf62 functions as an oncogene in HCC progression, behaving as a competitive endogenous RNA for miR-138-5p binding, thus activating the AKT/mTOR pathway. In conclusion, CircC16orf62 is an oncogene through the miR-138-5p/PTK2/Akt axis in HCC cells, indicating CircC16orf62 can be a therapeutic target with potentiality for liver cancer and a predictive marker for people with HCC.
Assuntos
Carcinoma Hepatocelular/patologia , Neoplasias Hepáticas/patologia , RNA Circular/fisiologia , Carcinoma Hepatocelular/genética , Linhagem Celular Tumoral , Proliferação de Células/genética , Progressão da Doença , Quinase 1 de Adesão Focal/genética , Quinase 1 de Adesão Focal/metabolismo , Regulação Neoplásica da Expressão Gênica , Células Hep G2 , Humanos , Neoplasias Hepáticas/genética , MicroRNAs/genética , MicroRNAs/metabolismo , Proteínas Proto-Oncogênicas c-akt/genética , Proteínas Proto-Oncogênicas c-akt/metabolismo , Transdução de Sinais/genéticaRESUMO
The incidence of colorectal cancer (CRC) is increasing in China, with high mortality. Here, we aimed to evaluate the latest clinicopathological features and prognostic value of the KRAS/NRAS/BRAF mutation status in CRC patients in Central China. The clinical data of 1549 CRC patients with stage I-IV disease diagnosed at Union Hospital, Tongji Medical College of Huazhong University of Science and Technology from 2015 to 2017 were collected and analyzed retrospectively. KRAS/NRAS/BRAF mutations were detected by real-time quantitative polymerase chain reaction (q-PCR) in 410 CRC patients, with mutation frequencies of KRAS, NRAS and BRAF of 47.56%, 2.93% and 4.15%, respectively. The gene mutation status and clinicopathological characteristics of 410 patients with CRC who underwent qPCR were analyzed. The KRAS and BRAF gene mutations were related to the pathological differentiation and number of metastatic lymph nodes. The BRAF gene mutation was also associated with cancer thrombosis in blood vessels. Cox regression analysis showed that there was no statistically significant difference in the overall survival (OS) between patients with KRAS, NRAS mutants and wild-type CRC patients, while the BRAF gene mutation was negatively correlated with the OS rate of CRC patients. It is suggested that the BRAF gene mutation may be an independent risk factor for the prognosis of CRC.
Assuntos
Biomarcadores Tumorais/genética , Neoplasias Colorretais/genética , GTP Fosfo-Hidrolases/genética , Proteínas de Membrana/genética , Proteínas Proto-Oncogênicas B-raf/genética , Proteínas Proto-Oncogênicas p21(ras)/genética , Adulto , Idoso , Biomarcadores Tumorais/normas , Neoplasias Colorretais/patologia , Feminino , GTP Fosfo-Hidrolases/normas , Humanos , Metástase Linfática , Masculino , Proteínas de Membrana/normas , Pessoa de Meia-Idade , Mutação , Valor Preditivo dos Testes , Proteínas Proto-Oncogênicas B-raf/normas , Proteínas Proto-Oncogênicas p21(ras)/normas , Análise de SobrevidaRESUMO
BACKGROUND: At present, the value of lipid indicators in evaluating the prognosis of colorectal cancer is still relatively limited. AIM: To evaluate the value of a novel parameter for colorectal cancer (CRC) prognosis scoring based on preoperative serum lipid levels. METHODS: Four key serum lipid factors, namely, high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), apolipoprotein A1 (ApoA1), and apolipoprotein B (ApoB), were detected. Two representative ratios, HDL-C-LDL-C ratio (HLR) and ApoA1-ApoB ratio (ABR) were calculated. The relationship of these parameters with the prognosis of CRC patients including progression-free survival (PFS) and overall survival (OS) was analyzed by Kaplan-Meier plot and Cox proportional hazards regression. A novel lipoprotein cholesterol-apolipoprotein (LA) score based on HLR and ABR was established and its value in prognosis evaluation for CRC patients was explored. RESULTS: Multivariate Cox proportional hazards regression analysis of PFS and OS showed that HDL-C, ApoA1, HLR, and ABR were positively associated with the prognosis of CRC patients. LA score was independently associated with a good prognosis in resectable CRC patients. Data processing of a dummy variable showed that the prognosis of patients with higher LA scores is better than that with lower LA scores. CONCLUSION: The newly established LA score might serve as a better predictor of the prognosis of resectable CRC patients.
RESUMO
OBJECTIVE: To investigate the significance of sonic hedgehog (Shh), indian hedgehog (Ihh), smoothened (Smo) and patched (Ptch) expressions in uterine cervical lesions and their relationships with HPV type 16 infection. METHODS: Totally 183 cases of cervical lesions, including 32 non-neoplastic cervix, 71 cervical intraepithelial neoplasia (28 CINI, 18 CINII, and 25 CINIII) and 80 squamous cell carcinomas (SCC) were selected from the Department of Pathology, Yanbian University Hospital, Yanbian Women Hospital, and Yanbian Tumor Hospital. Shh, Ihh, Ptch and Smo proteins expression were investigated by immunohistochemistry using tissue microarry platform, and the presence of HPV type 16 was detected by PCR method. RESULTS: Immunohistochemical staining showed that the frequencies of Shh, Ihh, Ptch and Smo expression were rare in normal cervical epithelium, but were strongly expressed in cervical cancer and its precursor lesions (CINII/III) (P < 0.01, P < 0.01, P < 0.05, P < 0.05, respectively). In cervical cancer, the expression rate of Shh (95%) was higher than that of CIN (CINI to CINIII) (46.4%, 61.1%, 80.0%, respectively, P < 0.05). HPV16 was positive in 77.5% of SCC. In cervical cancer, the expression of Shh was related with HPV16 infection (P < 0.05), and the expression of Smo was correlated with lymph node metastasis (P < 0.05). CONCLUSIONS: Shh, Ihh, Ptch, and Smo genes may play important roles in the development of cervical cancer. Detection of Hedgehog signaling pathway molecules seems helpful for the early diagnosis of cervical cancer and its precursor lesions, and are potentially therapeutic targets as well.
Assuntos
Proteínas Hedgehog/metabolismo , Papillomavirus Humano 16 , Infecções por Papillomavirus , Transdução de Sinais , Neoplasias do Colo do Útero/metabolismo , Adulto , Idoso , Carcinoma de Células Escamosas/metabolismo , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/virologia , Feminino , Humanos , Metástase Linfática , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Receptores Patched , Receptor Patched-1 , Receptores de Superfície Celular/metabolismo , Receptores Acoplados a Proteínas G/metabolismo , Receptor Smoothened , Neoplasias do Colo do Útero/patologia , Neoplasias do Colo do Útero/virologia , Adulto Jovem , Displasia do Colo do Útero/metabolismo , Displasia do Colo do Útero/patologia , Displasia do Colo do Útero/virologiaRESUMO
The aim of the present study was to evaluate the prognostic potential of postoperative scores of inflammation indexes and the dynamic changes of scores before and after tumor resection in colorectal cancer patients. The study included 516 colorectal cancer patients with primary colorectal tumor resection. Cox regression was applied to estimate the associations of postoperative and dynamic changes of inflammation indexes with progression-free survival and overall survival. As results, we found that higher postoperative neutrophil to lymphocyte ratio (NLR), neutrophil and monocyte to lymphocyte ratio (NMLR), platelet to lymphocyte ratio (PLR) and systemic immune inflammation index (SII) were associated with shorter progression-free survival. The increased NLR, NMLR, PLR, SII and C-reaction protein (CRP) to albumin (ALB) ratio (CAR) were associated with poor progression-free survival, with HRs (95% CIs) of 1.92 (1.27-2.90), 1.46 (1.11-2.09), 2.10 (1.34-3.30), 1.81 (1.22-2.70) and 1.65 (1.03-2.67), respectively. Postoperative NMLR, SII, CAR, and their dynamic changes were also significantly correlated with overall survival, with the HRs (95% CIs) of 2.63 (1.30-3.97), 2.44 (1.43-4.17), 2.74 (1.31-5.74), 2.08 (1.21-3.60), 1.97 (1.12-3.45) and 2.55 (1.21-5.38) respectively. In conclusion, postoperative inflammation indexes and their dynamic changes, particularly for NMLR, SII and CAR are promising prognostic predictors of CRC patients.
Assuntos
Neoplasias Colorretais/sangue , Inflamação/sangue , Valor Preditivo dos Testes , Prognóstico , Adulto , Idoso , Idoso de 80 Anos ou mais , Plaquetas/patologia , Proteína C-Reativa/metabolismo , Neoplasias Colorretais/epidemiologia , Neoplasias Colorretais/patologia , Intervalo Livre de Doença , Feminino , Humanos , Inflamação/epidemiologia , Inflamação/patologia , Estimativa de Kaplan-Meier , Contagem de Linfócitos , Masculino , Pessoa de Meia-Idade , Monócitos/patologia , Neutrófilos/patologia , Período Pós-Operatório , Índice de Gravidade de DoençaRESUMO
OBJECTIVE: To analyze and compare the composition of Radix Salviae Miltiorrhizae from different habitats by HPLC and TLC. METHODS: The fingerprints of Radix Salviae Miltiorrhizae were detected by HPLC and TLC. RESULTS: Radix Salviae Miltiorrhiza collected from different habitats showed diverse fingerprints of component. The content of tanshinone II A of Radix Salviae Miltiorrhizae in Shandong was the highest, which is 3.5 times higher than Shangluo of Shanxi province. CONCLUSION: The character of two analytical mehods with fingerprint of component is significant, simplicity, and reproducibility is great. The methods can be used to select Radix Salviae Miltiorrhizae for clinical and resarch institution.
Assuntos
Cromatografia Líquida de Alta Pressão/métodos , Cromatografia em Camada Fina/métodos , Plantas Medicinais/química , Salvia miltiorrhiza/química , Abietanos , China , Medicamentos de Ervas Chinesas/análise , Medicamentos de Ervas Chinesas/isolamento & purificação , Medicamentos de Ervas Chinesas/normas , Geografia , Farmacognosia , Fenantrenos/análise , Fenantrenos/isolamento & purificação , Plantas Medicinais/classificação , Controle de Qualidade , Reprodutibilidade dos Testes , Rizoma/química , Salvia miltiorrhiza/classificaçãoRESUMO
AIM: To study the chemical constituents of stems of Gymnema sylvestre (Retz.) Schult. METHODS: Chromatographic techniques using silica gel, C18 reversed phase silica gel, and prep-HPLC were used. The structures were elucidated on the basis of MS and spectroscopic analysis (1D and 2D NMR), as well as chemical methods. RESULTS: Seven compounds were isolated and their structures were elucidated as conduritol A (1), stigmasterol (2), lupeol (3), stigmasterol-3-O-ß-D-glucoside (4), the sodium salt of 22α-hydroxy-longispinogenin-3-O-ß-D-glucopyranosyl-(1â3)-ß-D-glu-curono-pyranosyl-28-O-α-L-rhamnopyranoside (5), oleanolic acid-3-O-ß-D-glucopyranosyl-(1â6)-ß-D-glucopyranoside (6), and the sodium salt of 22α-hydroxy-longispinogenin 3-O-ß-D-glucuronopyranosyl-28-O-α-L-rhamnopyranoside (7). The inhibition activities of compounds 1, 5-7 on non-enzymatic glycation of protein in vitro were evaluated. CONCLUSION: Compound 7 is a new triterpenoid saponin. It was shown that compounds 1, 5-7 have weak inhibition activities for non-enzymatic glycation of protein in vitro.
Assuntos
Medicamentos de Ervas Chinesas/química , Gymnema sylvestre/química , Caules de Planta/química , Medicamentos de Ervas Chinesas/isolamento & purificação , Estrutura MolecularRESUMO
SAHA (suberoylanilide hydroxamic acid or vorinostat) is the first nonselective histone deacetylase (HDAC) inhibitor approved by the US Food and Drug Administration (FDA). SAHA affects histone acetylation in chromatin and a variety of nonhistone substrates, thus influencing many cellular processes. In particularly, SAHA induces selective apoptosis of tumor cells, although the mechanism is not well understood. A series of microarray experiments was recently conducted to investigate tumor cell-selective proapoptotic transcriptional responses induced by SAHA. Based on that gene expression time series, we propose a novel framework for detailed analysis of the mechanism of tumor cell apoptosis selectively induced by SAHA. Our analyses indicated that SAHA selectively disrupted the DNA damage response, cell cycle, p53 expression, and mitochondrial integrity of tumor samples to induce selective tumor cell apoptosis. Our results suggest a possible regulation network. Our research extends the existing research.
Assuntos
Perfilação da Expressão Gênica , Regulação Neoplásica da Expressão Gênica , Regulação da Expressão Gênica , Inibidores de Histona Desacetilases/farmacologia , Ácidos Hidroxâmicos/farmacologia , Neoplasias/patologia , Algoritmos , Apoptose , Ciclo Celular , Análise por Conglomerados , Dano ao DNA , Humanos , Neoplasias/tratamento farmacológico , Software , Fatores de Tempo , VorinostatRESUMO
Crigler-Najjar (CN) syndrome is a rare autosomal recessive inherited disorder characterized by non-hemolytic, unconjugated hyperbilirubinemia. The levels of serum bilirubin and the response to phenobarbital treatment have been used to classify CN syndrome into two types: CN I and II. Mutations of the UGT1A1 gene have been found to be responsible for cases of CN syndrome. In the present study, the clinical features of a boy with an unusual type of CN syndrome were analysed. A DNA sample was obtained from the patient, and the promoter region, the exons and flanking intronic sequences of the UGT1A1 gene were analysed using the polymerase chain reaction and sequencing. The case was similar to CN type I in clinical features, but the therapeutic efficacy in the patient was superior to that typically observed in CN type II disease. Sequencing revealed compound heterozygous mutations, c.211G>A (p.G71R), c.1470C>T (p.D490D) and a normal homozygous A[TA]6TAA. No similar case has been reported worldwide and, considering the specific clinical features and therapeutic efficacy, a distinct type of CN was suspected. The phenotype of this unusual CN syndrome patient may be associated with the specific genotype.
Assuntos
Síndrome de Crigler-Najjar/diagnóstico , Glucuronosiltransferase/genética , Anticonvulsivantes/uso terapêutico , Síndrome de Crigler-Najjar/genética , Síndrome de Crigler-Najjar/terapia , Análise Mutacional de DNA , Éxons , Glucuronosiltransferase/metabolismo , Heterozigoto , Homozigoto , Humanos , Lactente , Masculino , Fenobarbital/uso terapêutico , FototerapiaRESUMO
The gland cells were successfully collected from the stems of Lysimachia fordiana Oliver, and the homologous pigments of fordianin A, fordianin B, fordianaquinone A and fordianaquinone B were firstly detected in the glands by HPLC. This indicated that the stem was an ideal material for the preparation of the glands, and the gland was a center for the polycyclic pigments accumulation in this species.