RESUMEN
We report a female newborn, diagnosed with fetal akinesia in utero, who died one hour after birth. Post-mortem muscle biopsy demonstrated actin-filament myopathy based on immunolabelling for sarcomeric actin, and large areas of filaments, without rod formation, ultrastructurally. Analysis of DNA extracted from the muscle disclosed a novel de novo heterozygous c.44G>A, GGC>GAC, 'p.Gly15Asp' mutation in the ACTA1 gene. Analysis of the location of the mutated amino-acid in the actin molecule suggests the mutation most likely causes abnormal nucleotide binding, and consequent pathological actin polymerization. This case emphasizes the association of fetal akinesia with actin-filament myopathy.
Asunto(s)
Citoesqueleto de Actina/genética , Enfermedades Fetales/genética , Proteínas de Microfilamentos/genética , Enfermedades Neuromusculares/genética , Citoesqueleto de Actina/patología , Adulto , ADN/genética , Femenino , Enfermedades Fetales/patología , Humanos , Recién Nacido , Músculo Esquelético/patología , Mutación/genética , Mutación/fisiología , Enfermedades Neuromusculares/patología , Embarazo , Sarcómeros/genéticaRESUMEN
OBJECTIVE: The major tensile strength of fetal membranes is provided by their extracellular matrix (ECM) components. The transcription factor Ets-1 is a critical mediator of ECM remodelling. The purpose of this study was to examine whether Ets-1 is expressed in human fetal membranes and whether it is implicated in premature membrane rupture. STUDY DESIGN: Amniochorionic membranes from 52 women in the following categories were analyzed for Ets-1 expression: preterm and term premature rupture of membranes, preterm and term labor and delivery, and preterm and term cesarean sections without previous onset of labor. Ets-1 protein was localized with the use of immunohistochemistry. Ets-1 levels were determined with a histoscore. RESULTS: Ets-1 protein was localized to the trophoblast as well as to the stromal layers. Ets-1 protein expression was up-regulated in the stroma of term and preterm prematurely ruptured membranes. CONCLUSION: Ets-1 is expressed in human fetal membranes and its expression is up-regulated with premature rupture of membranes, suggesting a role for Ets-1 in ECM remodelling of the membranes.