RESUMEN
OBJECTIVE: To discover and document cases of the rare disease analbuminemia. DESIGN AND METHODS: Blood specimens of a subject were analyzed by routine clinical laboratory procedures, by immunochemical tests for albumin, and by electrophoresis with immunofixation using anti-human serum albumin (HSA). Single-strand conformational polymorphism (SSCP), heteroduplex analysis (HA), and DNA sequencing of the 14 exons of the HSA gene were conducted on DNA from leukocytes. RESULTS: Albumin concentration was 0.003 g/L; serum globulins and cholesterol were elevated. Immunoelectrophoresis showed no trace of albumin in any of the serum components. The coding region plus all mRNA splice sites were normal and mutation-free, and SSCP and HA showed no abnormalities. CONCLUSIONS: Data define a bona fide case of analbuminemia. We suggest that the mutation causing the analbuminemic trait in this subject might involve a remote regulatory element.
Asunto(s)
Trastornos de las Proteínas Sanguíneas/genética , ADN/análisis , Albúmina Sérica/análisis , Albúmina Sérica/deficiencia , Adulto , Trastornos de las Proteínas Sanguíneas/etnología , Predisposición Genética a la Enfermedad , Análisis Heterodúplex , Humanos , Italia , Polimorfismo Conformacional Retorcido-Simple , Enfermedades Raras , Albúmina Sérica/genéticaRESUMEN
NFAT involvement in adipocyte physiological processes was examined by treatment with CsA and/or GSK3beta inhibitors (Li(+) or TZDZ-8), which prevent or increase NFAT nuclear translocation, respectively. CsA treatment reduced basal and TNFalpha-induced rates of lipolysis by 50%. Adipocytes preincubated with Li(+) or TZDZ-8 prior to CsA and/or TNFalpha, exhibited enhanced basal rates of lipolysis and complete inhibition of CsA-mediated decreased rates of lipolysis. CsA treatment dramatically reduced the mRNA levels of adipocyte-specific genes (aP2, HSL, PPARgamma, ACS and Adn), compared with control or TNFalpha-treatment, whereas Li(+) pretreatment blocked the inhibitory effects of CsA, and mRNA levels of aP2, HSL, PPARgamma, and ACS were found at or above control levels. NFAT nuclear localization, assessed by EMSA, confirmed that CsA or Li(+) treatments inhibited or increased NFAT nuclear translocation, respectively. These results show that NFAT proteins in mature adipocytes participate in the transcriptional control of genes involved in adipocyte metabolism and lipolysis.