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CANCER AND DIABETES vs. PREMATURE AGING
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Persons with Bloom’s syndrome are susceptible to the development of cancer and diabetes at earlier ages than the average person. Both of these conditions are associated with aging. The most common cause of death in Bloom’s syndrome is from the complications of cancer. Consequently, the logic goes, persons with Bloom’s syndrome have advanced aging. The logical fallacy comes from the understanding of association: A is associated with B; B is associated with C; but A does not have to be associated with C. Association is merely correlation, not necessarily causation or identity. Cancer and diabetes are associated with aging, but they are also associated with childhood conditions. Leukemia has two major ages in which diagnosis is more common: there is pediatric onset and there is older adult onset. Moreover, there are genetic conditions in which a high risk of cancer is the primary clinical manifestation. No one in the medical field asserts that carriers of mutations in the hereditary breast and ovarian cancer genes, BRCA1 and BRCA2, are aging prematurely when they are diagnosed with a cancer at an early age. These persons appear to develop and age normally. Therefore, the early development of cancer or diabetes is not necessarily related to premature aging.

Why are cancer and diabetes associated with aging? Does the cancer or diabetes that arises in Bloom’s syndrome reflect an underlying process of aging? What is an underlying process of aging? The most common explanation for the association between aging and cancer or diabetes is that these diseases develop due to time-dependent damage. Our cells are subject to damages from the cellular and outside environment. The damage is usually repaired and defective cells are usually eliminated, but over time some damage is missed and some cells slip through the net. There is also evidence that the ability our bodies have to repair damage and eliminate defective cells diminishes over time and this diminution is an effect of aging; it is an underlying process important to disease avoidance that changes as we grow older.

In Bloom’s syndrome, the rate of DNA mutations is increased, and we believe that this increased rate of DNA mutations plays a major role in the development of cancer. Consequently, we might infer that an underlying process of aging is occurring earlier in Bloom’s syndrome; however, the proposition is not proven. The rate of mutation is increased for one of three reasons: there could be more damage occurring in Bloom’s syndrome cells, there could be less repair of damage in Bloom’s syndrome cells, or both conditions could be true. Although the protein that is defective in Bloom’s syndrome (BLM) is part of a well-characterized DNA repair pathway—referred to as homologous recombination—there is in fact evidence that the rate at which DNA damage occurs in Bloom’s syndrome cells is faster.

In general, the DNA repair pathways in Bloom’s syndrome have the normal and quite efficient ability to repair a given amount of DNA damage. The most striking defect of Bloom’s syndrome cells is not the absence of a repair function; on the contrary, Bloom’s syndrome cells exhibit an excess of DNA repair by homologous recombination! To our knowledge, excess homologous recombination repair has heretofore not been associated with advanced aging. Again, a defect in DNA repair is neither a necessary nor sufficient cause for aging. It is sometimes associated with aging and sometimes not. The explanation for that association is certainly bringing us a better understanding of how aging works; consequently, it is the absence of the bone fide features of advanced aging that is interesting in Bloom’s syndrome.

BSA Blog

2016 Bianco Family's Fundraiser

Second annual fundraiser in memory of Vanessa Bianco and for the benefit of all individuals and families affected by Bloom’s syndrome. All proceeds from the 2016 campaign will go to Bloom’s Syndrome Association in support of its mission.

For more information and to make a donation, please visit the CrowdRise webpage for the 2016 Bianco Family's Fundraiser.

2017 Bianco Family's Fundraiser

Third annual fundraiser in memory of Vanessa Bianco and for the benefit of all individuals and families affected by Bloom’s syndrome. All proceeds from the 2017 campaign will go to Bloom’s Syndrome Association in support of its mission.

For more information and to make a donation, please visit the CrowdRise webpage for the 2017 Bianco Family's Fundraiser.

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