Ultraviolet-B-Induced Apoptosis and Cytokine Release in Xeroderma Pigmentosum Keratinocytes

Petit-Frère, Corinne; Capulas, Emily; Lowe, Jillian E.; Koulu, Leena; Marttila, Reijo J.; Jaspers, T. Nicolaas G. J.; Clingen, Peter H.; Green, Michael H.L.; Arlett, C.F.

doi:10.1046/j.1523-1747.2000.00093.x

Cited by 29 publications

(3 citation statements)

References 71 publications

(78 reference statements)

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“…It has been reported that patients with XP show immunosuppression in cellular immunity. Cells from XP patients can show abnormally high rates of apoptosis after cellular stress such as ultraviolet radiation [33]. It is tempting to speculate that high levels of oxidative stress, i.e.…”

Section: Discussionmentioning

confidence: 99%

The Cerebro-Morphological Fingerprint of a Progeroid Syndrome: White Matter Changes Correlate with Neurological Symptoms in Xeroderma Pigmentosum

et al. 2012

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BackgroundXeroderma pigmentosum (XP) is a rare autosomal recessive progeroid syndrome. It has recently been shown that the underlying DNA repair defect plays a central role in the aging process. In addition to skin symptoms, various premature neurological abnormalities have been reported.Methodology/Principal FindingsWe present the clinical neurological phenotype in 14 XP patients (seven subtypes), in seven of these patients together with conventional and multiparametric advanced MRI data to assess the macrostructural and microstructural cerebral morphology in comparison to controls, including volumetric measurements, MR spectroscopy (1H MRS), and diffusion tensor imaging (DTI). Clinical hallmarks were spinocerebellar ataxia, pyramidal tract signs, and mild cognitive deficits. DTI demonstrated significantly reduced WM directionality in all regions investigated, i.e. the thalamus, the corticospinal tracts and the dorsal corpus callosum. Single patients showed a marked relative hippocampal volume reduction, but the patients were not different from controls in the volumetric measurements of hippocampal and whole brain volumes at group level. However, 1H MRS demonstrated that the hippocampal formation was metabolically altered.ConclusionsThe most prominent feature was the white matter affectation, as assessed by DTI, with volume and directionality reductions of the fiber projections involving both the craniocaudal fibers and the interhemispheric connections. These findings, although heterogeneous among the study sample, could be correlated with the clinico-neurological symptoms. The imaging findings support the position that myelin structures degrade prematurely in the brain of XP patients.

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Section: Discussionmentioning

confidence: 99%

The Cerebro-Morphological Fingerprint of a Progeroid Syndrome: White Matter Changes Correlate with Neurological Symptoms in Xeroderma Pigmentosum

et al. 2012

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“…UV-B light, comprised of wavelengths between 290 and 320 nm, readily causes genetic damage [88], owing in large part to the fact that its spectrum lies close to the DNA molecule’s maximum absorbance [89]. The energy thus absorbed may then result in DNA lesions, like the formation of cyclobutane pyrimidine dimmers, that block transcription [90].…”

Section: Positive Stimuli For Apoptosismentioning

confidence: 99%

Mechanisms of apoptosis in Crustacea: what conditions induce versus suppress cell death?

et al. 2009

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Arthropoda is the largest of all animal phyla and includes about 90% of extant species. Our knowledge about regulation of apoptosis in this phylum is largely based on findings for the fruit fly Drosophila melanogaster. Recent work with crustaceans shows that apoptotic proteins, and presumably mechanisms of cell death regulation, are more diverse in arthropods than appreciated based solely on the excellent work with fruit flies. Crustacean homologs exist for many major proteins in the apoptotic networks of mammals and D. melanogaster, but integration of these proteins into the physiology and pathophysiology of crustaceans is far from complete. Whether apoptosis in crustaceans is mainly transcriptionally regulated as in D. melanogaster (e.g., RHG ‘killer’ proteins), or rather is controlled by pro- and anti-apoptotic Bcl-2 family proteins as in vertebrates needs to be clarified. Some phenomena like the calcium-induced opening of the mitochondrial permeability transition pore (MPTP) are apparently lacking in crustaceans and may represent a vertebrate invention. We speculate that differences in regulation of the intrinsic pathway of crustacean apoptosis might represent a prerequisite for some species to survive harsh environmental insults. Pro-apoptotic stimuli described for crustaceans include UV radiation, environmental toxins, and a diatom-produced chemical that promotes apoptosis in offspring of a copepod. Mechanisms that serve to depress apoptosis include the inhibition of caspase activity by high potassium in energetically healthy cells, alterations in nucleotide abundance during energy-limited states like diapause and anoxia, resistance to opening of the calcium-induced MPTP, and viral accommodation during persistent viral infection. Characterization of the players, pathways, and their significance in the core machinery of crustacean apoptosis is revealing new insights for the field of cell death.

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“…MultiVERSE identified various candidates for this disease (see Table 7 ), we detail here the most interesting ones. TNF has been related to XP 81 and skin tumour development 82 . IL6 is involved in melanoma, one of the major phenotypes of XP 83 .…”

Section: Resultsmentioning

confidence: 99%

MultiVERSE: a multiplex and multiplex-heterogeneous network embedding approach

Pio-Lopez

Valdeolivas

Tichit

et al. 2021

Sci Rep

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Network embedding approaches are gaining momentum to analyse a large variety of networks. Indeed, these approaches have demonstrated their effectiveness in tasks such as community detection, node classification, and link prediction. However, very few network embedding methods have been specifically designed to handle multiplex networks, i.e. networks composed of different layers sharing the same set of nodes but having different types of edges. Moreover, to our knowledge, existing approaches cannot embed multiple nodes from multiplex-heterogeneous networks, i.e. networks composed of several multiplex networks containing both different types of nodes and edges. In this study, we propose MultiVERSE, an extension of the VERSE framework using Random Walks with Restart on Multiplex (RWR-M) and Multiplex-Heterogeneous (RWR-MH) networks. MultiVERSE is a fast and scalable method to learn node embeddings from multiplex and multiplex-heterogeneous networks. We evaluate MultiVERSE on several biological and social networks and demonstrate its performance. MultiVERSE indeed outperforms most of the other methods in the tasks of link prediction and network reconstruction for multiplex network embedding, and is also efficient in link prediction for multiplex-heterogeneous network embedding. Finally, we apply MultiVERSE to study rare disease-gene associations using link prediction and clustering. MultiVERSE is freely available on github at https://github.com/Lpiol/MultiVERSE.

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Ultraviolet-B-Induced Apoptosis and Cytokine Release in Xeroderma Pigmentosum Keratinocytes

Cited by 29 publications

References 71 publications

The Cerebro-Morphological Fingerprint of a Progeroid Syndrome: White Matter Changes Correlate with Neurological Symptoms in Xeroderma Pigmentosum

The Cerebro-Morphological Fingerprint of a Progeroid Syndrome: White Matter Changes Correlate with Neurological Symptoms in Xeroderma Pigmentosum

Mechanisms of apoptosis in Crustacea: what conditions induce versus suppress cell death?

MultiVERSE: a multiplex and multiplex-heterogeneous network embedding approach

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