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<p class="publishdate"><span property="dc:date" datatype="xsd:dateTime" content="2023-05-23T00:00:00-04:00" class="date-display-single">May 23, 2023</span></p><div class='syndicate'><h1>Long telomeres may heighten cancer risks</h1><div class="callout callout-with-border"><h3>At a Glance</h3>
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<li>People with mutations that lead to excessively long chromosome tips, or telomeres, may be at increased risk for a range of cancers.</li>
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<li>The findings add another dimension to earlier research suggesting that increased telomere length can slow the aging process and prolong life.</li>
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</ul></div><div class="media-float-right"><div class="ds-1col file file-image file-image-jpeg view-mode-floated_media clearfix">
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<picture title="Illustration of X-shaped chromosomes with telomere caps at the end of each arm.">
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<!--[if IE 9]><video style="display: none;"><![endif]-->
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<source srcset="https://www.nih.gov/sites/default/files/styles/floated_media_breakpoint-large/public/news-events/research-matters/2023/20230523-telomeres.jpg?itok=U8FlTocM&timestamp=1684862364 1x" media="screen and (min-width: 960px)" />
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<source srcset="https://www.nih.gov/sites/default/files/styles/floated_media_breakpoint-medium/public/news-events/research-matters/2023/20230523-telomeres.jpg?itok=j8wPxNWK&timestamp=1684862364 1x" media="screen and (min-width: 800px)" />
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<source srcset="https://www.nih.gov/sites/default/files/styles/floated_media_breakpoint-medium-small/public/news-events/research-matters/2023/20230523-telomeres.jpg?itok=lpPZCS4r&timestamp=1684862364 1x" media="screen and (min-width: 600px)" />
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<source srcset="https://www.nih.gov/sites/default/files/styles/floated_media_breakpoint-small/public/news-events/research-matters/2023/20230523-telomeres.jpg?itok=pgKUNsGX&timestamp=1684862364 1x" media="screen and (min-width: 480px)" />
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<source srcset="https://www.nih.gov/sites/default/files/styles/floated_media_breakpoint-tiny/public/news-events/research-matters/2023/20230523-telomeres.jpg?itok=YrmEX814&timestamp=1684862364 1x" media="screen and (min-width: 0)" />
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<!--[if IE 9]></video><![endif]-->
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<img src="https://www.nih.gov/sites/default/files/styles/floated_media_breakpoint-medium/public/news-events/research-matters/2023/20230523-telomeres.jpg?itok=j8wPxNWK&timestamp=1684862364" alt="Illustration of X-shaped chromosomes with telomere caps at the end of each arm." title="Illustration of X-shaped chromosomes with telomere caps at the end of each arm." />
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</picture><span class="caption">Telomeres are structures at the ends of chromosomes that protect them from being broken down. </span><span class="credit">peterschreiber.media / Shutterstock</span></div>
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</div><p>Telomeres are protective molecular caps at the ends of chromosomes. They keep chromosome tips from being broken down. Telomeres tend to shorten as we get older, because they naturally erode each time cells divide. When telomeres shrink to a certain threshold, the cell stops multiplying or dies.</p>
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<p>Shortened telomeres have been linked to age-related disorders and early death in humans. Since long telomeres extend cells’ lifespan, some have suggested that boosting telomere length might help to delay certain age-related illnesses. But longer telomeres might carry their own sets of risks. And the potential health effects of having very long telomeres are poorly understood.</p>
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||
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||
<p>To learn more, a research team led by Dr. Mary Armanios of Johns Hopkins University studied people who have rare mutations that disable a telomere-related gene called <em>POT1</em>. This gene codes for a protein that normally helps to regulate telomere length. Mutations that hinder normal POT1 activity can lead to excessively long telomeres.</p>
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<p>The scientists identified 17 people with <em>POT1 </em>mutations from five unrelated families. The people ranged in age from 7 to 83, with most over age 40. Four had died from cancer. The researchers measured telomere length in the participants who were alive. For comparison, they also studied 21 relatives of the participants who didn’t have the <em>POT1</em> mutations. Findings were described in the <em>New England Journal of Medicine</em> on May 4, 2023.</p>
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||
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||
<p>The team found that all 13 people who were alive had telomeres that were longer on average than those of their relatives without the <em>POT1</em> mutations. Their telomeres were 90% longer than average. Some of those with the <em>POT1 </em>mutations showed modest signs of slowed aging, such as delayed graying of hair.</p>
|
||
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||
<p>However, 15 of the 17 participants with the mutations had some type of abnormal tissue growth, called neoplasms, that ranged from benign to cancerous. Eight had different types of the skin cancer melanoma. Seven had thyroid neoplasms, including thyroid cancer and goiters. The most life-threatening neoplasm was malignant glioma, a type of brain cancer that affected two participants.</p>
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||
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||
<p>In addition, five of the participants with the <em>POT1 </em>mutations had different types of blood-related cancers. Eight of 12 (67%) people analyzed also had an age-related blood condition called CHIP (clonal hematopoiesis of indeterminate potential). CHIP typically affects only about 10 to 20% of adults over the age of 70. It has been linked to an increased risk for blood and other cancers. The team found evidence that faulty POT1 activity can allow cancerous blood cells to grow and proliferate because they’re unchecked by the normal cell death that occurs when telomeres shorten.</p>
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||
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||
<p>These findings challenge the idea that strategies to lengthen telomeres could effectively protect against aging. “Cells with very long telomeres accumulate mutations and appear to promote tumors and other types of growths that would otherwise be put in check by normal telomere shortening processes,” Armanios says.</p>
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<p>—by Vicki Contie</p></div><h2 class="label-above">Related Links</h2><ul class="spaced print-urls"><li><a href="https://www.nih.gov/news-events/nih-research-matters/aging-melanocyte-stem-cells-gray-hair" target="_top">Aging Melanocyte Stem Cells and Gray Hair</a></li><li><a href="https://www.nih.gov/news-events/nih-research-matters/enzyme-active-cancer-also-protects-normal-cells" target="_top">Enzyme Active in Cancer also Protects Normal Cells </a></li><li><a href="https://newsinhealth.nih.gov/2016/06/can-you-lengthen-your-life" target="_top">Can You Lengthen Your Life? </a></li><li><a href="https://www.nia.nih.gov/health/topics/healthy-aging" target="_top">Healthy Aging</a></li></ul><p class="footnote"><strong class="label-inline">References: </strong><a href="https://pubmed.ncbi.nlm.nih.gov/37140166/">Familial Clonal Hematopoiesis in a Long Telomere Syndrome.</a> DeBoy EA, Tassia MG, Schratz KE, Yan SM, Cosner ZL, McNally EJ, Gable DL, Xiang Z, Lombard DB, Antonarakis ES, Gocke CD, McCoy RC, Armanios M. <em>N Engl J Med.</em> 2023 May 4. doi: 10.1056/NEJMoa2300503. Online ahead of print. PMID: 37140166.</p><p class="footnote"><strong class="label-inline">Funding: </strong>NIH’s National Cancer Institute (NCI), National Heart, Lung, and Blood Institute (NHLBI), National Institute of General Medical Sciences (NIGMS), and National Human Genome Research Institute (NHGRI); S&R Foundation; Commonwealth Foundation; Godrej Industries; Turock Family Scholars Fund; American Society of Hematology Scholar Award; Vera and Joseph Dresner Foundation.</p>
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<p><a href="https://www.nih.gov/news-events/nih-research-matters/research-context-can-we-slow-aging">Research in Context: Can we slow aging?</a></p>
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<p><a href="https://www.nih.gov/news-events/nih-research-matters/brain-changes-observed-during-pregnancy">Brain changes observed during pregnancy</a></p>
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<p><a href="https://www.nih.gov/news-events/nih-research-matters/research-context-detecting-cancer">Research in Context: Detecting cancer</a></p>
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<p><a href="https://www.nih.gov/news-events/nih-research-matters/risk-future-burden-dementia-united-states">Risk and future burden of dementia in the United States </a></p>
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<p><a href="https://www.nih.gov/news-events/nih-research-matters/complete-wiring-map-adult-fruit-fly-brain">Complete wiring map of an adult fruit fly brain</a></p>
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<h3 class="block__title">About NIH Research Matters</h3>
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<p><strong>Editor:</strong> Harrison Wein, Ph.D.</p>
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<p><strong>Assistant Editors:</strong> Vicki Contie and Brian Doctrow, Ph.D.</p>
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<p><strong><em>NIH Research Matters </em></strong>is a weekly update of NIH research highlights reviewed by NIH’s experts. It's published by the <a href="/institutes-nih/nih-office-director/office-communications-public-liaison">Office of Communications and Public Liaison</a> in the <a href="/institutes-nih/nih-office-director">NIH Office of the Director</a>.</p>
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<p>ISSN 2375-9593</p>
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