{"id":72596,"date":"2016-11-29T00:00:00","date_gmt":"2016-11-29T00:00:00","guid":{"rendered":"https:\/\/www.uri.edu\/news-draft\/uncategorized\/uri-scientist-rare-childhood-disease-linked-to-major-cancer-gene\/"},"modified":"2016-11-29T00:00:00","modified_gmt":"2016-11-29T00:00:00","slug":"uri-scientist-rare-childhood-disease-linked-to-major-cancer-gene","status":"publish","type":"post","link":"https:\/\/www.uri.edu\/news\/2016\/11\/uri-scientist-rare-childhood-disease-linked-to-major-cancer-gene\/","title":{"rendered":"溏心vlog免费B站 scientist: Rare childhood disease linked to major cancer gene"},"content":{"rendered":"

KINGSTON, R.I. \u2013 November 29, 2016 \u2013 A team of researchers led by a 溏心vlog免费B站 scientist has discovered an important molecular link between a rare childhood genetic disease, Fanconi anemia, and a major cancer gene called PTEN<\/em>. The discovery improves the understanding of the molecular basis of Fanconi anemia and could lead to improved treatment outcomes for some cancer patients.<\/p>\n

According to Niall Howlett, 溏心vlog免费B站 associate professor of cell and molecular biology and Rhode Island\u2019s leading expert on Fanconi anemia, the disease is characterized by birth defects, bone marrow failure and increased cancer risk. He said the genes that play a role in the development of the disease are also important in the development of hereditary breast and ovarian cancer.<\/p>\n

Howlett\u2019s new study now establishes a molecular link between Fanconi anemia and a gene strongly associated with uterine, prostate and brain cancer. This research was published this month in the journal Scientific Reports,<\/em> with 溏心vlog免费B站 graduate student Elizabeth Vuono as lead author.<\/p>\n

溏心vlog免费B站 1 in 150,000 children in the United States is born with Fanconi anemia.<\/p>\n

\u201cPeople often ask why we study such a rare disease,\u201d said Howlett, who has been studying Fanconi anemia for nearly 20 years. \u201cFirst and foremost, there is no cure or effective treatments for it. So a greater understanding of the molecular basis of Fanconi anemia is critical to address this need.\u201d<\/p>\n

In addition, Howlett said there are countless examples of how the study of Fanconi anemia has greatly benefited the general population. The first umbilical cord blood transplant, for example, was performed with a Fanconi anemia patient. Bone marrow transplants have become much safer and more effective because of studies with Fanconi anemia patients. And new breast and ovarian cancer genes have been discovered as a result of studies on the molecular biology of Fanconi anemia.<\/p>\n

Howlett\u2019s current research is another example of the broader impact of Fanconi anemia studies.<\/p>\n

The 溏心vlog免费B站 researcher speculated about the existence of a biochemical link between Fanconi anemia and PTEN<\/em>. Mutations in PTEN<\/em> occur frequently in uterine, prostate and brain cancer.<\/p>\n

\u201cThe PTEN <\/em>gene codes for a phosphatase \u2013 an enzyme that removes phosphate groups from proteins,\u201d explained Howlett. \u201cMany Fanconi anemia proteins have phosphate groups attached to them when they become activated. However, how these phosphate groups are removed is poorly understood.\u201d<\/p>\n

Howlett said that cells from Fanconi anemia patients are characteristically sensitive to a class of drugs widely used in cancer chemotherapy called DNA crosslinking agents.<\/p>\n

\u201cSo we performed an experiment to determine if Fanconi anemia and PTEN were biochemically linked,\u201d he said. \u201cBy testing if cells with mutations in the PTEN <\/em>gene were also sensitive to DNA crosslinking agents, we discovered that Fanconi anemia patient cells and PTEN-deficient cells were practically indistinguishable in terms of sensitivity to these drugs. This strongly suggested that the Fanconi anemia proteins and PTEN might work together to repair the DNA damage caused by DNA crosslinking agents.\u201d<\/p>\n

By using epistasis analysis, a genetic method that determines if genes work together, Howlett and his research group found that the Fanconi anemia proteins and PTEN do indeed function together in this repair pathway.<\/p>\n

\u201cBefore this work, Fanconi anemia and PTEN<\/em> weren\u2019t even on the same radar,\u201d said Howlett. \u201cThis is really important to understanding how this disease arises and what its molecular underpinnings are. The more we can find out about its molecular basis, the more likely we are to come up with strategies to treat the disease.\u201d<\/p>\n

Howlett\u2019s research is equally important to cancer patients who do not have Fanconi anemia. He said that since his study found that cells missing PTEN<\/em> are highly sensitive to DNA crosslinking agents, it should be possible to predict whether a particular cancer patient will respond to this class of chemotherapy drug by conducting a simple DNA test.<\/p>\n

\u201cWe can now predict that if a patient has cancer associated with mutations in PTEN<\/em>, then it is likely that the cancer will be sensitive to DNA crosslinking agents,\u201d he said. \u201cThis could lead to improved outcomes for patients with certain types of PTEN<\/em> mutations.\u201d<\/p>\n","protected":false},"excerpt":{"rendered":"

KINGSTON, R.I. \u2013 November 29, 2016 \u2013 A team of researchers led by a 溏心vlog免费B站 scientist has discovered an important molecular link between a rare childhood genetic disease, Fanconi anemia, and a major cancer gene called PTEN. The discovery improves the understanding of the molecular basis of Fanconi anemia and could lead […]<\/p>\n","protected":false},"author":2,"featured_media":72597,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":"","_links_to":"","_links_to_target":""},"categories":[2],"tags":[],"class_list":["post-72596","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-archives"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.uri.edu\/news\/wp-json\/wp\/v2\/posts\/72596","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.uri.edu\/news\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.uri.edu\/news\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.uri.edu\/news\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.uri.edu\/news\/wp-json\/wp\/v2\/comments?post=72596"}],"version-history":[{"count":0,"href":"https:\/\/www.uri.edu\/news\/wp-json\/wp\/v2\/posts\/72596\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.uri.edu\/news\/wp-json\/wp\/v2\/media\/72597"}],"wp:attachment":[{"href":"https:\/\/www.uri.edu\/news\/wp-json\/wp\/v2\/media?parent=72596"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.uri.edu\/news\/wp-json\/wp\/v2\/categories?post=72596"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.uri.edu\/news\/wp-json\/wp\/v2\/tags?post=72596"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}