- Untargeted metabolomics analysis of ABCC6-deficient mice discloses an altered metabolic liver profile.
Untargeted metabolomics analysis of ABCC6-deficient mice discloses an altered metabolic liver profile.
J Proteome Res. 2016 Oct 19;
Authors: Rasmussen MR, Nielsen KL, Laursen MR, Nielsen CB, Svendsen P, Dimke H, Christensen EI, Johannsen M, Moestrup SK
Loss-of-function mutations in the transmembrane ABCC6 transport protein cause pseudoxanthoma elasticum - an ectopic, metabolic mineralization disorder affecting the skin, eye and vessels. ABCC6 is assumed to mediate efflux of one or several small molecule compounds from the liver cytosol to the circulation. Untargeted metabolomics using liquid chromatography mass spectrometry was employed to inspect liver cytosolic extracts from mice with targeted disruption of the Abcc6 gene. Absence of the ABCC6 protein induced an altered profile of metabolites in the liver causing accumulation of compounds as more features were upregulated than downregulated in ABCC6-deficient mice. However, no differences of the identified metabolites in liver could be detected in plasma, whereas urine reflected some of the changes. Of note, N-acetylated amino acids and pantothenic acid (vitamin B5) that is involved in acetylation reactions were accumulated in the liver. None of the identified metabolites seem to explain mineralization in extrahepatic tissues, but the present study now shows that abrogated ABCC6 function does cause alterations in the metabolic profile of the liver in accordance with PXE being a metabolic disease originating from liver disturbance. Further studies of these changes and the further identification of yet unknown metabolites may help to clarify the liver-related pathomechanism of PXE.
PMID: 27758107 [PubMed - as supplied by publisher]
- Perforating pseudoxanthoma elasticum with secondary elastosis perforans serpiginosa-like changes: dermoscopy, confocal microscopy and histopathological correlation.
Perforating pseudoxanthoma elasticum with secondary elastosis perforans serpiginosa-like changes: dermoscopy, confocal microscopy and histopathological correlation.
J Cutan Pathol. 2016 Nov;43(11):1021-1024
Authors: Nasca MR, Lacarrubba F, Caltabiano R, Verzì AE, Micali G
Pseudoxanthoma elasticum is a rare congenital inherited elastolytic disorder that has sometimes been observed in association with transepidermal elimination of altered and calcified elastic fibers resulting in elastosis perforans serpiginosa-like changes. In this case, histopathology is usually performed to rule out other conditions. The case of a 38-year-old woman with two slowly enlarging asymptomatic plaques occurring on the neck and surrounded by coalescing yellowish papules with a typical cobblestone appearance, evaluated by polarized light dermoscopy and reflectance confocal microscopy with histopathologic correlations, is described. Noteworthy, with reflectance confocal microscopy, the transepidermal elimination of the altered elastic fibers in the plaques was detected as hyperreflective material filling the dermal papillae, whereas the transversal cleavage of the calcified elastic fibers yielded a peculiar 'eggs-in-the-basket' feature.
PMID: 27404989 [PubMed - in process]