X-Message-Number: 24552 Date: Tue, 24 Aug 2004 05:20:03 -0700 (PDT) From: Doug Skrecky <> Subject: telomere shortening may be the main cause of aging in some humans [...at least in humans suffering from Werner's syndrome... Could Atorvastatin be used to safely treat this? - see below] Mouse Model of Rare Disease Offers Clues to Aging and Cancer Development M. D. Anderson News Release 08/19/04 Scientists have developed the first mouse model of a rare disease in which people age rapidly and start developing cancers and other diseases associated with the elderly when they are only about 30 years old. The advance, reported in the August issue of Nature Genetics, is already shedding light on a suspected strong link between aging and cancer by suggesting that a single cellular protein can play a role in both processes, according to researchers. "Given that most cancer occurs in the elderly, aging is the biggest risk factor for developing cancer in humans," says the study's lead author, Sandy Chang, M.D., Ph.D., assistant professor in the Department of Molecular Genetics at The University of Texas M. D. Anderson Cancer Center. "Now, with this animal model, we can look at the common pathways that unify aging and cancer development." Working with Chang were researchers from Harvard Medical School, Brigham and Women's Hospital in Boston, and the Massachusetts Institute of Technology. Werner's syndrome, which only strikes about one per million individuals worldwide, is the premier example of an adult-onset premature aging syndrome. Individuals with the disease have no symptoms for the first decade of life, but then begin to rapidly develop signs of aging, including thinning hair, wrinkling skin, cataracts, osteoporosis and diabetes, and they often die in their 40s of cancer or heart disease. The root of the disease was found to be a failing gene that produces the protein WRN, known to help maintain the stability of the cell's genome. Patients with Werner's syndrome exhibit increased chromosomal aberrations, with pieces missing or fused onto other chromosomes, says Chang. WRN also has been implicated in telomere maintenance. Telomeres are repeat sequences that cap the end of chromosomes and are necessary for chromosomal stability. They also are closely associated with the aging process - every time a cell divides, telomeres lose some of their length, and once telomeres become too short, the cell is programmed to stop dividing. Because the features of accelerated aging in patients with Werner's syndrome only begins to be seen after adolescence, the researchers hypothesized that telomere malfunction produced by a loss of WRN contributes to disease progression. In other words, when WRN is absent, telomeres shorten prematurely, leading to a cessation of cell growth that becomes apparent much earlier in life, says Chang. "We believe that loss of WRN accelerates telomere shortening and promotes premature onset of aging phenotypes in mice," he says. "If that is true, then studying this mutation may give us a handle to understand what normally happens during the aging process." But in order to test the idea that the symptoms of Werner's syndrome require telomere shortening, the researchers had to create a mouse model of the disease. The first attempt by others to develop a mouse without WRN failed; the mice lived a long life. Scientists soon realized, however, that, in regard to telomeres, mice differ from those in humans in an important way. All cells in a mouse, they found, produce the enzyme telomerase that prevents telomeres from shortening, whereas only a few human tissue compartments typically "turn on" telomerase production. As a result, telomeres in mouse cells are much longer than in human cells, and mouse cells do not undergo the characteristic cessation of cell growth observed in human cells. Knowing that, Chang and his colleagues bred mice without WRN to mice engineered not to produce telomerase. They then allowed the offspring to procreate through several generations in order to progressively shorten the telomeres. In the first two generations, the mice aged normally. In later generations, however, some of the mice - the ones with the shortest telomeres - began to exhibit the classic symptoms of Werner's syndrome. They also developed certain non-epithelial cell cancers, including osteosarcomas, soft-tissues sarcomas and lymphoma. They also died at a much younger age than normal. "The cancers these mice developed are fairly rare in the general human population, but are common in patients with Werner's syndrome," says Chang. Thus the mouse model shows that a deficit in WRN can lead to genomic instability that both accelerates aging and spurs cancer formation, according to the researchers. Results of the study point to new avenues to explore, says Chang. Genomic instability also is the hallmark of cancers that develop in epithelial cells, which make up the majority of cancers in the general population. And this instability may also involve telomere length, he says. For example, the master tumor suppressor gene p53 senses when a cell's telomeres are too short and tells the cell to shut down. If p53 is dysfunctional, as it is in most cancers, the cell continues to divide. Telomeres that are too short increase genomic instability by promoting chromosomal fusions, a process which by itself is a risk factor for cancer development. But a "would be" cancer cell must also possess the ability to maintain their telomeres, otherwise they will die. Most human cancers keep their telomeres intact by turning on production of telomerase, thus ensuring that cells will remain immortal, dividing continually. "In fact, 90 percent of cancer cells use telomerase to keep the cells dividing," says Chang. "The common denominator in aging and cancer appears in part to be the failure to maintain genomic stability, and how the p53 pathway senses this instability will ultimately determine whether a cell is programmed to stop dividing (aging) or progress to immortal growth (cancer)," he says. "Now we have a mouse model that will help us understand these links in detail." Nat Genet. 2004 Aug;36(8):877-82. Epub 2004 Jul 04 Essential role of limiting telomeres in the pathogenesis of Werner syndrome. Mutational inactivation of the gene WRN causes Werner syndrome, an autosomal recessive disease characterized by premature aging, elevated genomic instability and increased cancer incidence. The capacity of enforced telomerase expression to rescue premature senescence of cultured cells from individuals with Werner syndrome and the lack of a disease phenotype in Wrn-deficient mice with long telomeres implicate telomere attrition in the pathogenesis of Werner syndrome. Here, we show that the varied and complex cellular phenotypes of Werner syndrome are precipitated by exhaustion of telomere reserves in mice. In late-generation mice null with respect to both Wrn and Terc (encoding the telomerase RNA component), telomere dysfunction elicits a classical Werner-like premature aging syndrome typified by premature death, hair graying, alopecia, osteoporosis, type II diabetes and cataracts. This mouse model also showed accelerated replicative senescence and accumulation of DNA-damage foci in cultured cells, as well as increased chromosomal instability and cancer, particularly nonepithelial malignancies typical of Werner syndrome. These genetic data indicate that the delayed manifestation of the complex pleiotropic of Wrn deficiency relates to telomere shortening. Ann N Y Acad Sci. 2004 Jun;1019:186-90 Telomerase expression is differentially regulated in birds of differing life span. Cellular senescence caused by telomere shortening has been suggested as one potential causal agent of aging. In some tissues, telomeres are maintained by telomerase; however, telomerase promotes tumor formation, suggesting a trade-off between aging and cancer. We predicted that telomerase activity should vary directly with life span. We determined telomerase activity in bone marrow in cross-sectional samples from two short-lived bird species and two long-lived bird species. The two short-lived species had high telomerase activity as hatchlings but showed a sharp downregulation in both the young and old adults, whereas the two long-lived species had relatively high telomerase activity in bone marrow that did not decrease with age. In zebra finches, the age-related change in telomerase activity varied in different tissues. Telomerase activity increased late in life in skeletal muscle, liver, and gonad, but not in blood or bone marrow. Gut. 2004 Jul;53(7):1001-9. Prevention of critical telomere shortening by oestradiol in human normal hepatic cultured cells and carbon tetrachloride induced rat liver fibrosis. BACKGROUND AND AIM: Significant telomere shortening of hepatocytes is associated with replicative senescence and a non-dividing state in chronic liver disease, resulting in end stage liver failure and/or development of hepatocellular carcinoma. To prevent critical telomere shortening in hepatocytes, we have focused on oestrogen dependent transactivation of the human telomerase reverse transcriptase (hTERT) gene as a form of telomerase therapy in chronic liver disease. METHODS: We examined expression of hTERT mRNA and its protein, and telomerase activity (TA) in three human normal hepatic cell lines (Hc-cells, h-Nheps, and WRL-68) before and after treatment with 17beta-oestradiol. The effects of exogenous oestradiol administration were examined in a carbon tetrachloride (CCl(4)) induced model of liver fibrosis in rats. RESULTS: Expression of hTERT mRNA and its protein was upregulated by oestradiol treatment. Telomere length decreased in Hc-cells and h-Nheps with accumulated passages whereas with long term oestradiol exposure it was greater than without oestradiol. The incidence of beta-galactosidase positive cells, indicating a state of senescence, decreased significantly in oestradiol treated cells in comparison with non-treated cells (p<0.05). TA in both male and female rats with CCl(4) induced liver fibrosis was significantly higher with oestradiol administration than without (p<0.05). Long term oestradiol administration markedly rescued the hepatic telomere from extensive shortening in both male and female rats. CONCLUSION: These results suggest that oestradiol acts as a positive modulator of the hTERT gene in the liver. Oestrogen dependent transactivation of the hTERT gene is a new strategy for slowing the progression of chronic liver disease. Circ Res. 2004 Apr 2;94(6):768-75. Epub 2004 Feb 12 Antioxidants inhibit nuclear export of telomerase reverse transcriptase and delay replicative senescence of endothelial cells. Aging is associated with a rise in intracellular reactive oxygen species (ROS) and a loss of telomerase reverse transcriptase activity. Incubation with H2O2 induced the nuclear export of telomerase reverse transcriptase (TERT) into the cytosol in a Src-family kinase-dependent manner. Therefore, we investigated the hypothesis that age-related increase in reactive oxygen species (ROS) may induce the nuclear export of TERT and contribute to endothelial cell senescence. Continuous cultivation of endothelial cells resulted in an increased endogenous formation of ROS starting after 29 population doublings (PDL). This increase was accompanied by mitochondrial DNA damage and preceded the onset of replicative senescence at PDL 37. Along with the enhanced formation of ROS, we detected an export of nuclear TERT protein from the nucleus into the cytoplasm and an activation of the Src-kinase. Moreover, the induction of premature senescence by low concentrations of H2O2 was completely blocked with the Src-family kinase inhibitor PP2, suggesting a crucial role for Src-family kinases in the induction of endothelial cell aging. Incubation with the antioxidant N-acetylcysteine, from PDL 26, reduced the intracellular ROS formation and prevented mitochondrial DNA damage. Likewise, nuclear export of TERT protein, loss in the overall TERT activity, and the onset of replicative senescence were delayed by incubation with N-acetylcysteine. Low doses of the statin, atorvastatin (0.1 micromol/L), had also effects similar to those of N-acetylcysteine. We conclude that both antioxidants and statins can delay the onset of replicative senescence by counteracting the increased ROS production linked to aging of endothelial cells. Circ Res. 2003 May 16;92(9):1049-55. Epub 2003 Apr 03. HMG-CoA reductase inhibitors reduce senescence and increase proliferation of endothelial progenitor cells via regulation of cell cycle regulatory genes. Endothelial progenitor cells (EPCs) play an important role in postnatal neovascularization of ischemic tissue. Ex vivo expansion of EPCs might be useful for potential clinical cell therapy of myocardial ischemia. However, cultivation of primary cells leads to cellular aging (senescence), thereby severely limiting the proliferative capacity. Therefore, we investigated whether statins might be able to prevent senescence of EPCs. EPCs were isolated from peripheral blood and characterized. After ex vivo cultivation, EPCs became senescent as determined by acidic beta-galactosidase staining. Atorvastatin or mevastatin dose-dependently inhibited the onset of EPC senescence in culture. Moreover, atorvastatin increased proliferation of EPCs as assessed by BrdU incorporation and colony-forming capacity. Whereas geranylgeranylpyrophosphate or farnesylpyrophosphate reduced the senescence inhibitory effect of atorvastatin, NO synthase inhibition, antioxidant s, or Rho kinase inhibitors had no effect. To get further insights into the underlying downstream effects of statins, we measured telomerase activity and determined the expression of various cell cycle regulatory genes by using a microarray assay. Whereas telomerase activity did not change, atorvastatin modulated expression of cell cycle genes including upregulation of cyclins and downregulation of the cell cycle inhibitor p27Kip1. Taken together, statins inhibited senescence of EPCs independent of NO, reactive oxygen species, and Rho kinase, but dependent on geranylgeranylpyrophosphate. Atorvastatin-mediated prevention of EPC senescence appears to be mediated by the regulation of various cell cycle proteins. The inhibition of EPC senescence and induction of EPC proliferation by statins in vitro may importantly improve the functional activity of EPCs for potential cell therapy. Clin Exp Pharmacol Physiol. 2004 Jul;31(7):407-13. Oxidized low-density lipoprotein induces endothelial progenitor cell senescence, leading to cellular dysfunction. 1. Recent studies have revealed an association between coronary risk factors and both the number and function of bone marrow-derived endothelial progenitor cells (EPC). We investigated the effect of oxidized low-density lipoprotein (ox-LDL) on the senescence of EPC, leading to cellular dysfunction. 2. Endothelial progenitor cells were isolated from human peripheral blood and characterized. The exposure of cultured EPC to ox-LDL (10 microg/mL) significantly accelerated the rate of senescence compared with control during 20 days in culture as determined by acidic beta-galactosidase staining. Oxidized LDL-induced EPC senescence was significantly inhibited by pretreatment with either lectin-like ox-LDL receptor-1 (LOX-1) antibody (Ab) or atorvastatin (P < 0.01). 3. Because cellular senescence is critically influenced by telomerase, which elongates telomeres, we measured telomerase activity using a polymerase chain reaction-ELISA-based assay. Oxidized LDL significantly diminished telomerase activity to approximately 50%, an effect that was significantly abolished by pretreatment with either LOX-1 Ab or atorvastatin (P < 0.01). 4. We examined whether ox-LDL-induced EPC senescence translates into EPC dysfunction. An MTS assay disclosed an inhibitory effect of ox-LDL on EPC proliferation. In a Matrigel assay, EPC treated with ox-LDL were less likely to participate in network formation compared with controls. 5. In conclusions, ox-LDL accelerates the onset of EPC senescence, which may be related to telomerase inactivation. Oxidized LDL-induced EPC senescence leads to the impairment of proliferative capacity and network formation. Rate This Message: http://www.cryonet.org/cgi-bin/rate.cgi?msg=24552