• Werner syndrome is a progeric syndrome characterized by premature atherosclerosis, diabetes, cancer, and death in humans. (nih.gov)
  • Werner syndrome is a premature aging syndrome displaying numerous signs and symptoms found in normal aging. (uky.edu)
  • Werner syndrome (WS) or Werner's syndrome, also known as "adult progeria", is a rare, autosomal recessive disorder which is characterized by the appearance of premature aging. (wikipedia.org)
  • He identified the syndrome in four siblings observed with premature aging, which he explored as the subject of his dissertation of 1904. (wikipedia.org)
  • Werner syndrome patients exhibit growth retardation, short stature, premature graying of hair, alopecia (hair loss), wrinkling, prematurely aged faces with beaked noses, skin atrophy (wasting away) with scleroderma-like lesions, lipodystrophy (loss of fat tissues), abnormal fat deposition leading to thin legs and arms, and severe ulcerations around the Achilles tendon and malleoli (around ankles). (wikipedia.org)
  • Individuals affected by the autosomal recessive disorder Werner's syndrome (WS) develop many of the symptoms characteristic of premature ageing. (ox.ac.uk)
  • Mutations in WRN lead to premature aging, known as Werner syndrome (WS). (nih.gov)
  • When Walker and his colleagues sequenced Brooke's DNA, they found that the genes associated with the premature-ageing diseases were normal, unlike the mutated versions in patients with Werner's Syndrome and progeria . (newscientist.com)
  • In an important model of premature aging, Werner's Syndrome, the genetic problem seems to be lack of a helicase protein that can unwind G-quadruplexes. (anti-agingfirewalls.com)
  • In humans, deficiencies in WRN function cause the segmental progeroid Werner syndrome (WS), in which patients show premature onset of many hallmarks of normal human ageing. (brighton.ac.uk)
  • Davis T, Wyllie FS, Rokicki MJ, Bagley MC, Kipling D. The role of cellular senescence in Werner syndrome: toward therapeutic intervention in human premature aging. (medscape.com)
  • Mutation in the WRN protein leads to the premature aging disease Werner syndrome, a disorder that features neurodegeneration. (clubalthea.com)
  • Functional autosomal recessive loss of three members of the family BLM, WRN and RECQL4, results in hereditary human syndromes characterized by cancer predisposition and premature aging, but despite the finding that RECQL5 deficient mice are cancer prone, no such link has been made to human RECQL5. (oncotarget.com)
  • Hutchinson-Gilford progeria syndrome (HGPS) is a rare dysmorphic syndrome characterized by several features of premature aging with clinical involvement of the skin, bones, and cardiovascular system. (wjgnet.com)
  • The research clarifies a putative telomeric maintenance function for the WRN protein that is defective in the cancer-prone and premature aging hereditary disease, Werner syndrome. (uky.edu)
  • In somatic cells lacking functional WRN, telomeres frequently become dysfunctional, leading to 1) increased cell senescence and apoptotic cell death that contribute to premature aging characteristics or 2) telomeric fusions that fuel rampant chromosomal instability and carcinogenesis, thus explaining the primary characteristics associated with Werner syndrome. (uky.edu)
  • Progeria is a rare syndrome of accelerated aging that manifests early in childhood and causes premature death. (msdmanuals.com)
  • Premature aging is a feature of other rare progeroid syndromes. (msdmanuals.com)
  • Werner syndrome is premature aging after puberty with hair thinning and development of conditions of old age (eg, cataracts, diabetes, osteoporosis, atherosclerosis). (msdmanuals.com)
  • Rothmund-Thomson syndrome is premature aging with increased susceptibility to cancer. (msdmanuals.com)
  • WS and several other progeroid syndromes are epigenetically distinct disorders. (medscape.com)
  • Barrios Sanjuanelo A, Munoz Otero C. [Atypical Werner syndrome: Atypical progeroid syndrome: A case report. (medscape.com)
  • Kyng KJ, Bohr VA. Gene expression and DNA repair in progeroid syndromes and human aging. (medscape.com)
  • Human progeroid syndromes are linked with mutations in single genes accelerating some, but not all, features of normal aging. (medscape.com)
  • Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome) is a recessively inherited syndrome of aging causing death by age 2 years. (msdmanuals.com)
  • At the level of gene expression, WRN protein deficiency causes changes in the pattern of gene expression that markedly resemble those of normal old age. (wikipedia.org)
  • The mutation in the WRN gene that causes Werner syndrome is autosomal and recessive, meaning that affected people must inherit a copy of the gene from each parent. (wikipedia.org)
  • Progeria can also refer to Hutchinson-Gilford syndrome , which is described as a lamin A gene defect and has onset early in life. (medscape.com)
  • In young adults, mutation in the Werner syndrome (WS) gene is believed to be associated with clinical symptoms typically found in elderly individuals. (medscape.com)
  • The WRN gene encodes a 3'-5' DNA helicase, and is a member of the RecQ family, which also includes the product of the Bloom's syndrome gene (BLM). (ox.ac.uk)
  • The WRN gene provides instructions for producing the Werner protein, which plays a critical role in repairing damaged DNA. (medlineplus.gov)
  • More than 60 mutations in the WRN gene are known to cause Werner syndrome. (medlineplus.gov)
  • Researchers are still determining how mutations in the WRN gene lead to the signs and symptoms of Werner syndrome. (medlineplus.gov)
  • When too many methyl groups are attached to the WRN gene (hypermethylation), the gene is turned off and the Werner protein is not produced. (medlineplus.gov)
  • Futami K, Ishikawa Y, Goto M, Furuichi Y, Sugimoto M. Role of Werner syndrome gene product helicase in carcinogenesis and in resistance to genotoxins by cancer cells. (medlineplus.gov)
  • It is caused by pathogenic variants in the WRN gene, which encodes a multifunctional nuclear protein with exonuclease and helicase activities. (amrita.edu)
  • In progeria, for example, the decisive damage is to a gene that makes lamin A, a protein located just under the nuclear membrane of a cell. (newscientist.com)
  • The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase. (lookformedical.com)
  • A novel mutation of the WRN gene in a Chinese patient with Werner syndrome. (medscape.com)
  • Hisama FM, Kubisch C, Martin GM, Oshima J. Clinical utility gene card for: Werner syndrome. (medscape.com)
  • Novel LMNA gene mutation in a patient with Atypical Werner's Syndrome. (medscape.com)
  • A polymorphism in Werner syndrome gene is associated with breast cancer susceptibility in Chinese women. (medscape.com)
  • LMNA (lamin A/C) gene mutation has been described with atypical Werner syndrome, with the severe metabolic complications, the extent of the lipodystrophy being linked with A133L mutation in the LMNA gene. (medscape.com)
  • Progeria is caused by a sporadic mutation in the LMNA gene that codes for a protein (lamin A) that provides the molecular scaffolding of cell nuclei. (msdmanuals.com)
  • Cockayne syndrome is an autosomal recessive disorder caused by mutation in the ERCC8 gene, which is important in DNA excision repair. (msdmanuals.com)
  • WRN interacts physically and functionally with replication protein A (RPA), which stimulates its helicase activity. (uky.edu)
  • Other associated skin conditions include ulcers, which are very difficult to treat in Werner syndrome patients, and are caused in part by decreased potential of skin cells for replication. (wikipedia.org)
  • The protein is likely to be involved in the response to DNA damage during replication, as well as in the replication and transcription processes. (medscape.com)
  • Werner's syndrome protein (WRN) migrates Holliday junctions and co-localizes with RPA upon replication arrest. (ox.ac.uk)
  • In cells arrested in S-phase with hydroxyurea, WRN localizes to discrete nuclear foci that coincide with those formed by the single-stranded DNA binding protein replication protein A. These results are consistent with a model in which WRN prevents aberrant recombination events at sites of stalled replication forks by dissociating recombination intermediates. (ox.ac.uk)
  • Without normal Werner protein in the nucleus, DNA replication, repair, and transcription are disrupted. (medlineplus.gov)
  • Cheng WH, Muftuoglu M, Bohr VA. Werner syndrome protein: functions in the response to DNA damage and replication stress in S-phase. (medlineplus.gov)
  • WRN protein is thought to be involved in optimization of various aspects of DNA metabolism, including DNA repair, recombination, replication, and transcription. (amrita.edu)
  • Differentially expressed candidate genes for ageing previously identified in the human blood transcriptome up-regulated in PP cows were mainly associated with T-cell function ( CCR7 , CD27 , IL7R , CAMK4 , CD28 ), mitochondrial ribosomal proteins ( MRPS27 , MRPS9 , MRPS31 ), and DNA replication and repair ( WRN ). (biomedcentral.com)
  • In prior studies I demonstrated that WRN protein directly interacts with the DNA replication machinery. (yale.edu)
  • Proteins that catalyze the unwinding of duplex DNA during replication by binding cooperatively to single-stranded regions of DNA or to short regions of duplex DNA that are undergoing transient opening. (lookformedical.com)
  • DNA nuclease/helicase 2 (DNA2), a multi-functional protein protecting the high fidelity of genomic transmission, plays critical roles in DNA replication and repair processes. (longevityfacts.com)
  • WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations. (medscape.com)
  • thus protecting the chromosome ends from being recognized by the cell as double-strand breaks, in addition to protection by proteins that bind the telomere. (rupress.org)
  • A ubiquitously expressed telomere-binding protein that is present at TELOMERES throughout the cell cycle. (lookformedical.com)
  • Wnts bind to the cell surface Frizzled family receptors in conjunction with low-density lipoprotein receptor-related protein family receptors (LRP5 or 6) resulting in the stabilization of intracellular beta -catenin levels (2). (novusbio.com)
  • Memory tests showed mild to a strong improvement in memory function, increased expression levels of postsynaptic density protein 95 (PSD95), and low-density lipoprotein receptor-related protein 1 (LRP1), which are involved in synaptic plasticity and amyloid-beta (Aβ) elimination, respectively. (biomedcentral.com)
  • Werner syndrome (WS) is a rare autosomal recessive disorder characterized by a constellation of adult onset phenotypes consistent with an acceleration of intrinsic biological aging. (amrita.edu)
  • Case report of a long-surviving Werner syndrome patient with severe aortic valve stenosis. (medscape.com)
  • High levels of cytosine can be found in the urine of individuals with severe combined immunodeficiency syndrome (SCID). (hmdb.ca)
  • Severe acute respiratory syndrome (SARS) is a newly with human SARS-CoVwas identified in palm civets and emerged infectious disease caused by SARS-associat- other animals found in live animal markets in Guangdong, ed coronavirus (SARS-CoV) (1). (cdc.gov)
  • Background Reports suggest that some persons previously infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) lack detectable IgG antibodies. (cdc.gov)
  • This protein plays an important role in copying (replicating) DNA before cell division and transferring the information in genes to the cell machinery that makes proteins (transcription). (medlineplus.gov)
  • The lack of Werner protein allows mutations to accumulate in other genes, which may cause cells to grow and divide in an uncontrolled way. (medlineplus.gov)
  • Identification of Restless Legs Syndrome Genes by Mutational Load Analysis. (cdc.gov)
  • Serum vitamin D, vitamin D receptor and binding protein genes polymorphisms in restless legs syndrome. (cdc.gov)
  • Genetic Association Study of Restless Legs Syndrome in Chinese Population. (cdc.gov)
  • Pirzio LM, Pichierri P, Bignami M, Franchitto A. Werner syndrome helicase activity is essential in maintaining fragile site stability. (medscape.com)
  • A single-stranded DNA-binding protein that is found in EUKARYOTIC CELLS. (lookformedical.com)
  • Among them, the sirtuin, AMP-activated protein kinase, mammalian target of rapamycin, p53, and insulin/insulin-like growth factor-1 signaling pathways are most widely studied. (frontiersin.org)
  • Among the simple Mendelian disorders of humans, Werner syndrome most closely resembles an acceleration of normal aging. (yale.edu)
  • The Werner protein also functions as an enzyme called an exonuclease. (medlineplus.gov)
  • A basic cerebrospinal examination exposed no abnormalities (protein 0.24 g/l, glucose 3.68 mmol/l, lactate 1.5 mmol/l, erythrocyte count 1106/l, cell-count 1106/l, albumin 144 g/l, no intrathecal NU 6102 production of antibodies). (onlycoloncancer.com)
  • Lamin A/C proteins have key roles in nuclear structural integrity and chromosomal stability. (mdpi.com)
  • Lamin A/C cumulative protein expression of all variants is reported by semi-quantitative Western blotting. (mdpi.com)
  • His graduate thesis focused on the nuclear protein Werner (WRN) and autophagy. (nih.gov)
  • Ameiotic1 ( Am1 ) encodes a plant-specific nuclear protein (AM1) required for meiotic entry and progression through early prophase I. Pollen mother cells (PMCs) remain mitotic in most am1 mutants including am1-489 , while am1-praI permits meiotic entry but PMCs arrest at the leptotene/zygotene (L/Z) transition, defining the roles of AM1 protein in two distinct steps of meiosis. (biomedcentral.com)
  • Most of these mutations result in an abnormally short, nonfunctional Werner protein. (medlineplus.gov)
  • Following this initial clinical exposure to RTT, investigations began to intensify, spurred by efforts of Hugo Moser to convene an international meeting at Johns Hopkins Medical School in 1985 and the subsequent creation of the International Rett Syndrome Association (IRSA) through the leadership of three parents, Kathy Hunter, Gail Smith, and Jane Brubaker. (hindawi.com)
  • Werner syndrome: clinical evaluation of two cases and a novel mutation. (medscape.com)
  • Goto M, Ishikawa Y, Sugimoto M, Furuichi Y. Werner syndrome: a changing pattern of clinical manifestations in Japan (1917~2008). (medscape.com)
  • The main clinical presentation of complete androgen insensitivity syndrome (CAIS) in childhood is the presence of bilateral inguinal hernia. (bvsalud.org)
  • Abcam: antibodies, proteins, kits. (abcam.com)
  • Methods We analyzed serologic data collected from health care workers and first responders in New York City and the Detroit metropolitan area with history of a positive SARS-CoV-2 reverse transcriptase polymerase chain reaction (RT-PCR) test result and who were tested for IgG antibodies to SARS-CoV-2 spike protein at least 2 weeks after symptom onset. (cdc.gov)
  • These studies demonstrate that IgG, IgM, and IgA antibodies targeted to the virally encoded surface spike (S) and nucleocapsid (N) proteins develop nearly simultaneously in a high proportion of patients within 2 weeks after symptom onset. (cdc.gov)
  • In one study of 20 persons with mild disease subsequently tested with five commercial assays 28-54 days after symptom onset, 10-30% tested negative depending on the assay, with no obvious differences whether the assays tested antibodies targeted to the S or N proteins. (cdc.gov)
  • Werner syndrome patients often have skin that appears shiny and tight, and may also be thin or hardened. (wikipedia.org)
  • Werner syndrome patients are at increased risk for several other diseases, many associated with aging. (wikipedia.org)
  • The mean survival for patients with Werner syndrome (WS) is 46 years. (medscape.com)
  • Ethnic-Specific WRN Mutations in South Asian Werner Syndrome Patients: Potential Founder Effect in Patients with Indian or Pakistani Ancestry. (medscape.com)
  • In addition, an estimated one-third of PANS patients present with low serum C4 protein, suggesting decreased production or increased consumption of C4 protein. (bvsalud.org)
  • Prognostic Impact of Restless Legs Syndrome on Patients with Heart Failure. (cdc.gov)
  • Computed structures of core eukaryotic protein complexes. (ifom.eu)
  • Mammalian cells repair DSBs by homologous recombination and non-homologous end joining, the latter requiring DNA-dependent protein kinase (DNA-PK). (elsevierpure.com)
  • Nucleotide excision repair is the cellular pathway responsible for removing helix-distorting DNA damage and deficiency in such repair is found in a number of diseases with neurodegenerative phenotypes, including Xeroderma Pigmentosum and Cockayne syndrome. (clubalthea.com)
  • Additionally, recent studies suggest that the Werner protein may be particularly important for maintaining DNA at the ends of chromosomes (telomeres). (medlineplus.gov)
  • Comai L, Li B. The Werner syndrome protein at the crossroads of DNA repair and apoptosis. (medlineplus.gov)
  • Internal signals producing apoptosis depend on interactions of several proteins and may serve to protect the organism from cancer by killing cells that have pre-cancerous changes. (agemed.org)
  • This syndrome represents an important model for aging, possibly allowing improved understanding of mechanisms and therapeutics of human aging. (medscape.com)
  • Werner syndrome with refractory cystoid macular edema and immunohistochemical analysis of WRN proteins in human retinas. (medscape.com)
  • Early human SARS-CoV is closer genetically to animal csr/sars/en). (cdc.gov)
  • G-quadraplexes play key roles in a number of other diseases like ALS, Fragile X syndrome, Fanconi's anemia and Friedrich's ataxia. (anti-agingfirewalls.com)
  • PACAP was effective in the downregulation of proinflammatory cytokines, such as monocyte chemoattractant protein-1 (MCP-1) and interleukin-6, which had been induced by the activation of toll-like receptor (TLR) with lipopolysaccharide. (scite.ai)
  • In addition, we found monocyte chemoattractant protein-1(MCP-1) levels significantly increased, whereas intercellular adhesion molecule-1(ICAM-1) significantly decreased, and microglial marker (Iba1) did not change in the treatment group compared to the control. (biomedcentral.com)
  • WRN is a 1432 amino acid protein consisting of several domains. (nih.gov)
  • It is structurally different from TELOMERIC REPEAT BINDING PROTEIN 1 in that it contains basic N-terminal amino acid residues. (lookformedical.com)
  • In turn, Mcd1p requires SMC proteins and Pds5p requires Mcd1p for chromosomal recruitment. (rupress.org)
  • Research suggests that this shortened protein is not transported into the cell's nucleus, where it normally interacts with DNA. (medlineplus.gov)
  • According to reports in the medical literature, the hair loss seen in those with Werner syndrome may occur secondary to impaired functioning of the ovaries in females or the testes in males (hypogonadism), an endocrine condition associated with deficient growth and sexual development. (seniorhealthcarematters.com)
  • Both males and females with Werner syndrome may be affected by hypogonadism. (seniorhealthcarematters.com)
  • More recently we have found other protein interactions that involve physical and functional interactions with WRN, which could suggest a role for WRN in DNA repair. (uky.edu)
  • Dr. Maity obtained his Ph.D. in Cellular and Molecular Biology from the Life Science and Biotechnology department at Jadavpur University, India in 2017, where he studied the DNA damage repair protein WRN and autophagy. (nih.gov)
  • The series of investigations strongly suggest that defects in DNA repair of specific lesions produced by oxidative damage in slowly dividing or non-dividing cells account for those unique aspects of Werner syndrome that mimic normal aging. (yale.edu)
  • We present a 3 years and 6 months old child with female phenotype, born in São Paulo, Brazil which was diagnosed intraoperatively with complete androgen insensitivity syndrome, during inguinal hernia repair and present potential diagnostic alternatives that we consider viable options in order to avoid this kind of surprise during surgery. (bvsalud.org)
  • [ 6 ] Another patient had a homozygous novel 1bp-deletion in exon 19 of WRN , 2426/27delG, causing frameshift and protein truncation R809SfsX2. (medscape.com)
  • We have purified the Werner protein (WRN) and studied its biochemical activities and its protein interactions. (uky.edu)