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xeroderma pigmentosum

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https://www.readbyqxmd.com/read/28144106/multiple-cutaneous-malignancies-in-a-child-with-xeroderma-pigmentosum-a-case-report
#1
Rita V Vora, RahulKrishna SureshKumar Kota, Nilofar G Diwan
No abstract text is available yet for this article.
October 2016: Indian Journal of Medical and Paediatric Oncology
https://www.readbyqxmd.com/read/28130555/xpf-knockout-via-crispr-cas9-reveals-that-ercc1-is-retained-in-the-cytoplasm-without-its-heterodimer-partner-xpf
#2
Janin Lehmann, Christina Seebode, Sabine Smolorz, Steffen Schubert, Steffen Emmert
The XPF/ERCC1 heterodimeric complex is essentially involved in nucleotide excision repair (NER), interstrand crosslink (ICL), and double-strand break repair. Defects in XPF lead to severe diseases like xeroderma pigmentosum (XP). Up until now, XP-F patient cells have been utilized for functional analyses. Due to the multiple roles of the XPF/ERCC1 complex, these patient cells retain at least one full-length allele and residual repair capabilities. Despite the essential function of the XPF/ERCC1 complex for the human organism, we successfully generated a viable immortalised human XPF knockout cell line with complete loss of XPF using the CRISPR/Cas9 technique in fetal lung fibroblasts (MRC5Vi cells)...
January 27, 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/28120709/dna-damaging-anticancer-drugs-a-perspective-for-dna-repair-oriented-therapy
#3
Janusz Blasiak
DNA-damaging drugs in cancer present two main problems: therapeutic resistance and side effects and both can associate with DNA repair, which can be targeted in cancer therapy. Bleomycin (BLM) induces complex DNA damages, including strand breaks, base loss and 3'-phosphoglycolate (3'PG) residues repaired by several pathways, but 3'PGs must be processed to the 3'-OH ends, usually by tyrosyl-DNA phosphodiesterase 1 (Tdp1). Therefore, targeting Tdp1 can improve anticancer therapy with BLM. Mitomycin C (MMC) produces a variety of adducts with DNA, including inter-strand cross-links (ICLs) and Xeroderma pigmentosum (XP) proteins, including XPG, XPE and XPF can be crucial for the initial stage of ICL repair, so they can be targeted by inhibitors to increase toxicity of MMC in cancer cells...
January 24, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28115629/a-novel-role-for-transcription-coupled-nucleotide-excision-repair-for-the-in-vivo-repair-of-3-n4-ethenocytosine
#4
Isaac A Chaim, Alycia Gardner, Jie Wu, Teruaki Iyama, David M Wilson, Leona D Samson
Etheno (ε) DNA base adducts are highly mutagenic lesions produced endogenously via reactions with lipid peroxidation (LPO) products. Cancer-promoting conditions, such as inflammation, can induce persistent oxidative stress and increased LPO, resulting in the accumulation of ε-adducts in different tissues. Using a recently described fluorescence multiplexed host cell reactivation assay, we show that a plasmid reporter bearing a site-specific 3,N(4)-ethenocytosine (εC) causes transcriptional blockage. Notably, this blockage is exacerbated in Cockayne Syndrome and xeroderma pigmentosum patient-derived lymphoblastoid and fibroblast cells...
January 23, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28109890/sunlight-damage-to-cellular-dna-focus-on-oxidatively-generated-lesions
#5
André Passaglia Schuch, Natália Cestari Moreno, Natielen Jacques Schuch, Carlos Frederico Martins Menck, Camila Carrião Machado Garcia
The routine and often unavoidable exposure to solar ultraviolet (UV) radiation makes it one of the most significant environmental DNA-damaging agents to which humans are exposed. Sunlight, specifically UVB and UVA, triggers various types of DNA damage. Although sunlight, mainly UVB, is necessary for the production of vitamin D, which is necessary for human health, DNA damage may have several deleterious consequences, such as cell death, mutagenesis, photoaging and cancer. UVA and UVB photons can be directly absorbed not only by DNA, which results in lesions, but also by the chromophores that are present in skin cells...
January 18, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28098755/exopolysaccharides-isolated-from-milk-fermented-with-lactic-acid-bacteria-prevent-ultraviolet-induced-skin-damage-in-hairless-mice
#6
Masashi Morifuji, Masami Kitade, Tomoyuki Fukasawa, Taketo Yamaji, Masamitsu Ichihashi
BACKGROUND: We studied the mechanism by which fermented milk ameliorates UV-B-induced skin damage and determined the active components in milk fermented with lactic acid bacteria by evaluating erythema formation, dryness, epidermal proliferation, DNA damage and cytokine mRNA levels in hairless mice exposed to acute UV-B irradiation. METHODS: Nine week-old hairless mice were given fermented milk (1.3 g/kg BW/day) or exopolysaccharide (EPS) concentrate (70 mg/kg BW/day) orally for ten days...
January 13, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28074905/mir-488-inhibits-proliferation-and-cisplatin-sensibility-in-non-small-cell-lung-cancer-nsclc-cells-by-activating-the-eif3a-mediated-ner-signaling-pathway
#7
Chao Fang, Yi-Xin Chen, Na-Yiyuan Wu, Ji-Ye Yin, Xiang-Ping Li, Hsuan-Shun Huang, Wei Zhang, Hong-Hao Zhou, Zhao-Qian Liu
Our previous studied indicated that eukaryotic translation initiation factor 3a (eIF3a) increases the sensitive of platinum-based chemotherapy in lung cancer. MiRNAs play an important role in lung carcinogenesis and drug response. In this study, we aimed to identify potential endogenous miRNAs that inhibit eIF3a expression and determine their influence of this inhibition on cisplatin resistance. Using bioinformatics analysis prediction and confirmation with dual-luciferase reporter assays, we found that miRNA-488 inhibited eIF3a expression by directly binding to the 3'UTR of eIF3a...
January 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28056182/noise-stress-induces-an-epidermal-growth-factor-receptor-xeroderma-pigmentosum-a-response-in-the-auditory-nerve
#8
O'neil W Guthrie
In response to toxic stressors, cancer cells defend themselves by mobilizing one or more epidermal growth factor receptor (EGFR) cascades that employ xeroderma pigmentosum-A (XPA) to repair damaged genes. Recent experiments discovered that neurons within the auditory nerve exhibit basal levels of EGFR+XPA co-expression. This finding implied that auditory neurons in particular or neurons in general have the capacity to mobilize an EGFR+XPA defense. Therefore, the current study tested the hypothesis that noise stress would alter the expression pattern of EGFR/XPA within the auditory nerve...
December 1, 2016: Journal of Histochemistry and Cytochemistry: Official Journal of the Histochemistry Society
https://www.readbyqxmd.com/read/28054914/detailed-audiological-evaluation-of-a-patient-with-xeroderma-pigmentosum-with-neural-degeneration
#9
Danielle Mercer, Annette Hurley, Fern Tsien
BACKGROUND: Xeroderma pigmentosum (XP) is a rare autosomal recessive condition characterized by extreme sensitivity to ultraviolet light. Individuals with XP lack the ability to repair DNA (deoxyribonucleic acid) damage caused by ultraviolet radiation, leading to sunburn and increased susceptibility to skin cancers. Approximately 25% of patients also exhibit neural degeneration, which includes progressive mental deterioration, cortical thinning, and sensorineural hearing loss. PURPOSE: Herein, we describe the audiological and genetic findings in a patient with XP subtype D with neural degeneration and hearing loss...
January 2017: Journal of the American Academy of Audiology
https://www.readbyqxmd.com/read/28011151/the-cyclopurine-deoxynucleosides-dna-repair-biological-effects-mechanistic-insights-and-unanswered-questions
#10
Philip J Brooks
Patients with the genetic disease xeroderma pigmentosum (XP) who lack the capacity to carry out nucleotides excision repair (NER) have a dramatically elevated risk of skin cancer on sun exposed areas of the body. NER is the DNA repair mechanism responsible for the removal of DNA lesions resulting from ultraviolet light. In addition, a subset of XP patients develop a progressive neurodegenerative disease, referred to as XP neurologic disease, which is thought to be the result of accumulation of endogenous DNA lesions that are repaired by NER but not other repair pathways...
December 21, 2016: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/27990405/camouflage-in-xeroderma-pigmentosum
#11
Gayathri Krishnaswamy, Swetha Sunny Kurian, C R Srinivas, L Sorna Kumar
No abstract text is available yet for this article.
November 2016: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/27982466/expansion-of-the-genotypic-and-phenotypic-spectrum-of-xeroderma-pigmentosum-in-chinese-population
#12
Jia Zhang, Ruhong Cheng, Xia Yu, Zhonghui Sun, Ming Li, Zhirong Yao
BACKGROUND: Xeroderma pigmentosum (XP) is a rare genodermatoses characterized by exaggerated sunburn reactions, freckle-like pigmentation and a high possibility of developing cutaneous tumors. XP comprised seven complementation groups (from XP-A to XP-G) and a variant form XP-V. METHODS: This study was based on five unrelated Chinese families with six patients clinically suspected to be XP. Mutation screening was performed by direct sequencing of the entire coding region of eight XP genes...
December 16, 2016: Photodermatology, Photoimmunology & Photomedicine
https://www.readbyqxmd.com/read/27929383/association-between-genetic-variants-in-the-xpg-gene-and-gastric-cancer-risk-in-a-southern-chinese-population
#13
Rui-Xi Hua, Zhen-Jian Zhuo, Jinhong Zhu, Dan-Hua Jiang, Wen-Qiong Xue, Shao-Dan Zhang, Jiang-Bo Zhang, Xi-Zhao Li, Pei-Fen Zhang, Wei-Hua Jia, Guo-Ping Shen, Jing He
Xeroderma pigmentosum group G (XPG) recognizes and excises DNA damage on the 3' side during the DNA repair process. Previous studies indicated that XPG gene polymorphisms may associate with gastric cancer susceptibility, but results were inconsistent. We evaluated the association of five potentially functional XPG polymorphisms (rs2094258 C>T, rs751402 C>T, rs2296147 T>C, rs1047768 T>C, and rs873601 G>A) with gastric cancer susceptibility in 1142 gastric cancer cases and 1173 controls. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using logistic regression models...
December 6, 2016: Aging
https://www.readbyqxmd.com/read/27920683/squamous-cell-carcinoma-in-african-children-with-xeroderma-pigmentosum-three-case-reports
#14
Mamadou Kaloga, Pauline Dioussé, Boubacar Ahy Diatta, Mariama Bammo, Sarah Kourouma, Almamy Diabate, Ndiaga Gueye, Haby Dione, Moussa Diallo, Bernard Marcel Diop
INTRODUCTION: Xeroderma pigmentosum is a rare autosomal recessive genetic disease. This disease predisposes patients to early-onset skin cancers, particularly squamous cell carcinoma. Here, we report 3 pediatric cases, including 2 deaths. OBSERVATION: The subjects included 2 boys and 1 girl with skin type VI. All subjects were from consanguineous marriages, and the average age was 7.6 years. The patients all had ulcerative budding tumor lesions in the cephalic region, and the mean disease duration was 18 months...
September 2016: Case Reports in Dermatology
https://www.readbyqxmd.com/read/27908619/correlation-of-dna-repair-gene-polymorphisms-with-clinical-outcome-in-patients-with-locally-advanced-non-small-cell-lung-cancer-receiving-induction-chemotherapy-followed-by-surgery
#15
Mariacarmela Santarpia, Jose Luis Ramirez, Itziar de Aguirre, Pilar Garrido, Maria Pérez Cano, Cristina Queralt, Jose Luis Gonzalez-Larriba, Amelia Insa, Mariano Provencio, Dolores Isla, Carlos Camps, Remei Blanco, Teresa Moran, Rafael Rosell
OBJECTIVE: The aim of this study was to evaluate whether xeroderma pigmentosum group D (XPD) and ribonucleotide reductase subunit M1 (RRM1) polymorphisms influenced clinical outcome in patients with stage IIIA-B non-small-cell lung cancer (NSCLC) treated with neoadjuvant gemcitabine/cisplatin/docetaxel followed by surgery. MATERIALS AND METHODS: A total of 109 patients with stage IIIA and IIIB NSCLC were prospectively genotyped to examine a potential association between XPD 312 (aspartic acid [Asp]/asparagine [Asn]), XPD 751 (lysine [Lys]/glutamine [Gln]), and RRM1 (-37 C/A) polymorphisms with response and survival...
November 9, 2016: Clinical Lung Cancer
https://www.readbyqxmd.com/read/27904274/pretreatment-of-ferulic-acid-protects-human-dermal-fibroblasts-against-ultraviolet-a-irradiation
#16
Hyung Jin Hahn, Ki Bbeum Kim, Seunghee Bae, Byung Gon Choi, Sungkwan An, Kyu Joong Ahn, Su Young Kim
BACKGROUND: Approximately 90%~99% of ultraviolet A (UVA) ray reaches the Earth's surface. The deeply penetrating UVA rays induce the formation of reactive oxygen species (ROS), which results in oxidative stress such as photoproducts, senescence, and cell death. Thus, UVA is considered a primary factor that promotes skin aging. OBJECTIVE: Researchers investigated whether pretreatment with ferulic acid protects human dermal fibroblasts (HDFs) against UVA-induced cell damages...
December 2016: Annals of Dermatology
https://www.readbyqxmd.com/read/27873138/photo-enzymatic-repair-of-uvb-induced-dna-damage-in-the-two-spotted-spider-mite-tetranychus-urticae
#17
Yasumasa Murata, Masahiro Osakabe
Ambient ultraviolet-B (UVB) radiation induces lethal effects in the two-spotted spider mite Tetranychus urticae, whereas photoreactivation by irradiation with ultraviolet-A and visible light (VIS) plays an important role to increase survival of mites irradiated by UVB. The physiological mechanisms and ecological significance of photoreactivation in terrestrial arthropods have not been shown clearly. We verified the biological impact and accumulation of DNA lesions by UVB irradiation and the repair of them by photoreactivation in T...
January 2017: Experimental & Applied Acarology
https://www.readbyqxmd.com/read/27861965/impact-of-the-circadian-clock-on-uv-induced-dna-damage-response-and-photocarcinogenesis
#18
REVIEW
Panshak Dakup, Shobhan Gaddameedhi
The skin is in constant exposure to various external environmental stressors, including solar ultraviolet (UV) radiation. Various wavelengths of UV light are absorbed by the DNA and other molecules in the skin to cause DNA damage and induce oxidative stress. The exposure to excessive ultraviolet (UV) radiation and/or accumulation of damage over time can lead to photocarcinogenesis and photoaging. The nucleotide excision repair (NER) system is the sole mechanism for removing UV photoproduct damage from DNA, and genetic disruption of this repair pathway leads to the photosensitive disorder xeroderma pigmentosum (XP)...
January 2017: Photochemistry and Photobiology
https://www.readbyqxmd.com/read/27827925/transcriptional-and-posttranslational-regulation-of-nucleotide-excision-repair-the-guardian-of-the-genome-against-ultraviolet-radiation
#19
REVIEW
Jeong-Min Park, Tae-Hong Kang
Ultraviolet (UV) radiation from sunlight represents a constant threat to genome stability by generating modified DNA bases such as cyclobutane pyrimidine dimers (CPD) and pyrimidine-pyrimidone (6-4) photoproducts (6-4PP). If unrepaired, these lesions can have deleterious effects, including skin cancer. Mammalian cells are able to neutralize UV-induced photolesions through nucleotide excision repair (NER). The NER pathway has multiple components including seven xeroderma pigmentosum (XP) proteins (XPA to XPG) and numerous auxiliary factors, including ataxia telangiectasia and Rad3-related (ATR) protein kinase and RCC1 like domain (RLD) and homologous to the E6-AP carboxyl terminus (HECT) domain containing E3 ubiquitin protein ligase 2 (HERC2)...
November 4, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27808039/neurodegeneration-in-accelerated-aging
#20
Moren Scheibye-Knudsen
The growing proportion of elderly people represents an increasing economic burden, not least because of age-associated diseases that pose a significant cost to the health service. Finding possible interventions to age-associated disorders therefore have wide ranging implications. A number of genetically defined accelerated aging diseases have been characterized that can aid in our understanding of aging. Interestingly, all these diseases are associated with defects in the maintenance of our genome. A subset of these disorders, Cockayne syndrome, Xeroderma pigmentosum group A and ataxia-telangiectasia, show neurological involvement reminiscent of what is seen in primary human mitochondrial diseases...
November 2016: Danish Medical Journal
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