RESUMEN
Peeling skin syndrome is a heterogeneous group of rare disorders. Peeling skin, leukonychia, acral punctate keratoses, cheilitis and knuckle pads (PLACK syndrome, OMIM616295) is a newly described form of PSS with an autosomal recessive mode of inheritance. We report a 5.5-year-old boy with features of PLACK syndrome. Additionally, he had mild cerebral atrophy and mild muscle involvements. Whole exome sequencing was performed in genomic DNA of this individual and subsequent analysis revealed a homozygous c.544G > T (p.Glu182*) nonsense mutation in the CAST gene encoding calpastatin. Sanger sequencing confirmed this variant and demonstrated that his affected aunt was also homozygous. Real-time qRT-PCR and immunoblot analysis showed reduced calpastatin expression in skin fibroblasts derived from both affected individuals compared to heterozygous family members. In vitro calpastatin activity assays also showed decreased activity in affected individuals. This study further supports a key role for calpastatin in the tight regulation of proteolytic pathways within the skin.
Asunto(s)
Proteínas de Unión al Calcio/genética , Codón sin Sentido/genética , Dermatitis Exfoliativa/genética , Enfermedades Cutáneas Genéticas/genética , Piel , Adulto , Preescolar , Femenino , Homocigoto , Humanos , Masculino , Piel/metabolismo , Piel/patologíaRESUMEN
The influence of bacterial flagella on cell transport has been examined using three Salmonella enterica serovars with different motility phenotypes. Both a packed bed (PB) column and radial stagnation point flow system (RSPF) were employed to investigate bacterial deposition kinetics onto quartz over a range of conditions. The aim of this study was to better understand the role of motility on the deposition behavior of Salmonella, an important food- and waterborne pathogen. In both the PB column and RSPF systems, flagellated strains showed higher deposition, indicating the nonmotile cells can be transported further than the motile. At late-exponential growth phase, the deposition of the functional flagellated motile strain was enhanced, much more so than the dysfunctionally flagellated nonmotile and nonflagellated strains, highlighting the role of flagellar motion in cellular deposition and retention through available pore spaces and irregularities on quartz surfaces.
