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Werner Syndrome

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on 22 December 2012

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Transcript of Werner Syndrome

Werner Syndrome Lanaya, Rachel and Marcia. Werner Syndrome is the appearance of aging at an accelerated rate. What is Werner Syndrome? US, N.L.O.M. (2008, ). Genetics Home Reference - Your guide to understanding genetic conditions. Werner syndrome - Genetics Home Reference. Retrieved December 7, 2012, from http://ghr.nlm.nih.gov/condition/werner-syndrome References Symptoms - Short Stature
- Loss of skin fat
- Small hands and feet
- Bird-like face
- Skin aging symptoms (wrinkling)
- Premature greying & balding
- Cataracts Life Span Werner Syndrome Patients People diagnosed with Werner syndrome have a shorter life span than the average person.
Factors causing a reduced life span are:
- Susceptibility to multiple rare cancers
- Susceptibility to type II diabetes
- Severe hardening of the arteries. (Early atherosclerosis)
- Susceptibility to osteoporosis. US, N.L.O.M. (2008, ). People with Werner syndrome is often associated with:
- Decreased fertility
- Being flat footed
-Hoarse or high pitched voice. US, N.L.O.M. (2008, ). US, N.L.O.M. (2008, ). Werner Syndrome affects the WRN gene. The WRN gene is located in the 8th human chromosome. Chromosomal Characteristics Werner syndrome is recessive, this means the parents are both carriers of the mutated gene, but not affected. In meiosis when the DNA is replicated the mutated gene is contained in the DNA of the gamete. If both gametes forming the zygote have this mutated gene then the child will have the syndrome. US, N.L.O.M. (2008, ). Signal Transduction Pathway Con't The protein that is used in Werner syndrome belongs to the RecQ family of helicases. These helicases are believed to properly detect and repair damage of DNA (Cobb et al., 2002). It is said that the role of WRN in benzene-inducedhematotoxicity has not fully been discovered. Signal Mechanism & Receptor The signal mechanism has not been fully understood to present day. Experiments have been done to further the information on how the defect occurs within the pathway and what ligand is used to trigger this defect. It is known that within the pathway of Werner syndrome the receptor is a protein. It is also said that Werner syndrome physically interacts with proteins associated with telomeres. Signal Transduction Pathway The type of pathway used in Werner syndrome is a protein pathways. This means that there is a specific protein receptor that sits in the membrane of the cell and allows the signal mechanism to trigger the pathway. The WRN goes in a 3' --- 5' direction. U.S, Ahn B, Lee JW, Jung H, Beck G, Bohr VA (2009) Correct Mechanism Damaged Way The genomic instabilities involved with Werner syndrome are RECQ2, RECQ3, and RECQ4 genes. U.S, Ahn B, Lee JW, Jung H, Beck G, Bohr VA (2009) In addition, WS cells exhibit genomic instability, replication defects, aberrant telomere maintenance, and a gene expression profile that resembles normal human aging, implicating the role of Werner syndrome protein (WRN) in maintenance of self-renewing capabilities and prevention of cellular senescence. The main cause of Werner syndrome is a frame shift mutation resulting in a loss of a part of the WRN protein. U.S, Ahn B, Lee JW, Jung H, Beck G, Bohr VA (2009) U.S, Ahn B, Lee JW, Jung H, Beck G, Bohr VA (2009) U.S, Ahn B, Lee JW, Jung H, Beck G, Bohr VA (2009) U.S, Ahn B, Lee JW, Jung H, Beck G, Bohr VA (2009) The Werner syndrome protein (WRN) is a member of the human RecQ family DNA helicases used in the maintenance of genome stability. WRN plays a crucial role in the response to replication stress and significantly contributes to the recovery of stalled replication forks. There is a growing body of evidence that WRN accomplishes its task in close connection with the replication checkpoint. In eukaryotic cells, the replication checkpoint response is told to take care of the maintenance of fork integrity and re-establishment of fork progression. Cellular Response Ahn B, Lee JW, Jung H, Beck G, Bohr VA (2009) Mechanism of Werner DNA Helicase: POT1 and RPA Stimulates WRN to Unwind beyond Gaps in the Translocating Strand. PLoS ONE 4(3): e4673. doi:10.1371/journal.pone.0004673
http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0004673 Xuefeng Ren, 1 Sophia Lim, 1 Martyn T. Smith, and Luoping Zhang 2 (2008). Werner Syndrome Protein, WRN, Protects Cells from DNA Damage Induced by the Benzene Metabolite Hydroquinone. . , 9.
http://superfund.berkeley.edu/pdf/138.pdf Pietro Pichierri1,2, Francesca Ammazzalorso1,2, Margherita Bignami2 and Annapaola Franchitto1,3 ( 3/7/11). The Werner syndrome protein: linking the replication checkpoint response to genome stability. . , .
http://www.impactaging.com/papers/v3/n3/full/100293.html Since the DNA is damaged, that damaged DNA is going to be replicated and spread to all other cells. This is going to age all the other organs within the body, creating the appearance of an older person compared to their actual age. Organismal Response The correct mechanism would be when the aged cells do not re-enter the cell cycle. Meaning that the aged cells can not replicate and make more damaged DNA, resulting in werner syndrome. Correct Way Scientists have already shown that Progeria is accelerated aging (rather than just appearing to be accelerated aging), a fact that makes this condition even more compelling for aging researchers. Curing Progeria should pave the way for advances in our understanding of the aging process in healthy adults. Current Direction of Research David Moskowitz MD MA(Oxon.) FACP (2005). David Moskowitz MD MA(Oxon.) FACP. retrieved 12/21/2012, from Fight Aging! Web Site: http://www.citationcreation.com/apa/website.html David Moskowitz , (2005) Pietro Pichierri1,2, Francesca Ammazzalorso1,2, Margherita Bignami2 and Annapaola Franchitto1,3 ( 3/7/11). Smith, J. (2010). A role for the Werner syndrome protein in epigenetic inactivation of the pluripotency factor Oct4. Aging Cell, 9(4), 580. doi:10.1111/j.1474-9726.2010.00585.x Smith, J. (2010). Smith, J. (2010).
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