RESUMO
OBJECTIVE: To investigate the alteration of retinoid X receptor alpha (RXRalpha) mRNA level in normal human keratinocytes after acitretin and/or NB-UVB irradiation treatment. METHODS: After a 12-hour incubation with 10(-7)-10(-6) mol/L acitretin and/or following 50-100 mJ/cm2 NB-UVB irradiation in normal human keratinocytes, RXRalpha mRNA expression was examined by reverse transcription polymerase chain reaction (RT-PCR) and real-time quantitative RT-PCR. RESULTS: The expression of RXRalpha mRNA was obviously decreased by NB-UVB irradiation, but not by acitretion single treatment. When combining acitretin treatment with NB-UVB irradiation, greater decreased RXRalpha mRNA expression was observed than that of single treatment. CONCLUSION: Narrow-band UVB irradiation treatment can decrease RXRalpha mRNA expression, but not acitretin single treatment. Combining treatment with both can produce synergistic inhibition effects.
Assuntos
Acitretina/farmacologia , Queratinócitos/metabolismo , Receptor X Retinoide alfa/genética , Raios Ultravioleta , Expressão Gênica/efeitos dos fármacos , Expressão Gênica/efeitos da radiação , Humanos , Queratinócitos/efeitos dos fármacos , Queratinócitos/efeitos da radiação , RNA Mensageiro/biossíntese , RNA Mensageiro/genética , Reação em Cadeia da Polimerase Via Transcriptase ReversaRESUMO
OBJECTIVE: To investigate the mutations of ATP2C1 gene in Chinese patients with Hailey-Hailey disease (HHD). METHODS: Genomic DNA was extracted from peripheral blood leukocytes. PCR and direct DNA sequencing were used to detect the mutations in all 27 exons of ATP2C1 gene in patients of two Chinese families and a sporadic patient with HHD. RESULTS: Three mutations in ATP2C1 gene were found, including 1 nonsense mutation, 1 deletion/frameshift mutation and 1 missense mutation. All of them were novel mutations. CONCLUSION: All the three mutations could affect the transcription and translation, and further the function of protein encoded by ATP2C1 gene.
Assuntos
Povo Asiático/genética , ATPases Transportadoras de Cálcio/genética , Mutação , Pênfigo Familiar Benigno/genética , Adulto , Sequência de Bases , Estudos de Casos e Controles , Códon sem Sentido , Análise Mutacional de DNA , Éxons/genética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Linhagem , Alinhamento de Sequência , Deleção de SequênciaRESUMO
OBJECTIVE: To investigate the changes in cell proliferation and retinoic acid receptor gamma (RARgamma) mRNA expression in normal human keratinocytes after acitretin treatment and/or narrow-band ultraviolet-B irradiation. METHODS: Normal human keratinocytes were exposed to irradiation with 100 mJ/cm square NB-UVB and/or subsequent 12-hour incubation with 1x10(-6) mol/L acitretin, and the expression of RARgamma mRNA in the cells was examined using RT-PCR and real-time quantitative RT-PCR. RESULTS: A 0.9- and a 2.3-fold increase in RARgamma mRNA expression was induced in the cells by exposure to 100 mJ/cm square NB-UVB and 10(-6) mol/L acitretin, respectively, and the expression was synergistically enhanced by 2.8-fold after their combined treatment. CONCLUSION: Upregulated expression of RARgamma mRNA can be associated with keratinocyte growth inhibition after treatment with acitretin and NB-UVB irradiation.
Assuntos
Acitretina/farmacologia , Queratinócitos/efeitos dos fármacos , Queratinócitos/efeitos da radiação , Receptores do Ácido Retinoico/metabolismo , Raios Ultravioleta , Células Cultivadas , Humanos , RNA Mensageiro/metabolismo , Receptor gama de Ácido RetinoicoAssuntos
Ferroquelatase/genética , Protoporfiria Eritropoética/genética , Criança , China , Feminino , Humanos , Masculino , Mutação PuntualRESUMO
OBJECTIVE: To investigate the gene mutation in two pedigrees with X-linked ichthyosis (XLI) and explore the relationship between the mutation and clinical manifestations. METHODS: Genomic DNA of the affected and normal members of the pedigrees and 50 unrelated normal subjects from different regions was extracted with a whole blood genomic DNA extraction kit for use of the template for PCR amplification of exon 1, exon 2 and exon 10 of the steroid sulfatase (STS) gene. RESULTS: The STS gene was partially deleted in the affected members in the pedigrees with XLI, leaving only exon 1 but not the other exons. The normal member of the pedigree and 50 unrelated normal subjects had no such deletion. CONCLUSION: Partial deletion of the STS gene exists in the two pedigrees with XLI, which is responsible for pathological skin changes characteristic of XLI.
