Bloom Syndrome

Common Name(s)

Bloom Syndrome

Bloom syndrome is a disorder characterized by a significantly increased risk of cancer and various other features. Signs and symptoms include short stature; sun-sensitive skin changes on the face, hands and/or arms; a high-pitched voice; and distinctive facial features including a long, narrow face, small lower jaw, large nose and prominent ears. Some affected individuals may also have learning disabilities; an increased risk of diabetes; chronic obstructive pulmonary disease (COPD); and recurrent infections of the upper respiratory tract, ears, and lungs during infancy. Cancers may include any of those found in the general population, but develop much earlier in life in affected individuals. It is caused by mutations in the BLM gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Bloom Syndrome" for support, advocacy or research.

Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

http://www.jewishgenetics.org

Last Updated: 26 Dec 2012

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Bloom Syndrome" for support, advocacy or research.

Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

http://www.jewishgenetics.org

Last Updated: 26 Dec 2012

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Bloom Syndrome" returned 72 free, full-text research articles on human participants. First 3 results:

Ubiquitin-dependent recruitment of the Bloom syndrome helicase upon replication stress is required to suppress homologous recombination.
 

Author(s): Shweta Tikoo, Vinoth Madhavan, Mansoor Hussain, Edward S Miller, Prateek Arora, Anastasia Zlatanou, Priyanka Modi, Kelly Townsend, Grant S Stewart, Sagar Sengupta

Journal: EMBO J.. 2013 Jun;32(12):1778-92.

 

Limiting the levels of homologous recombination (HR) that occur at sites of DNA damage is a major role of BLM helicase. However, very little is known about the mechanisms dictating its relocalization to these sites. Here, we demonstrate that the ubiquitin/SUMO-dependent DNA damage ...

Last Updated: 13 Jun 2013

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FE65 regulates and interacts with the Bloom syndrome protein in dynamic nuclear spheres - potential relevance to Alzheimer's disease.
 

Author(s): Andreas Schrötter, Thomas Mastalski, Fabian M Nensa, Martin Neumann, Christina Loosse, Kathy Pfeiffer, Fouzi El Magraoui, Harald W Platta, Ralf Erdmann, Carsten Theiss, Julian Uszkoreit, Martin Eisenacher, Helmut E Meyer, Katrin Marcus, Thorsten Müller

Journal: J. Cell. Sci.. 2013 Jun;126(Pt 11):2480-92.

 

The intracellular domain of the amyloid precursor protein (AICD) is generated following cleavage of the precursor by the γ-secretase complex and is involved in membrane to nucleus signaling, for which the binding of AICD to the adapter protein FE65 is essential. Here we show that ...

Last Updated: 13 Jun 2013

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Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair.
 

Author(s): Li Wan, Jinhua Han, Ting Liu, Shunli Dong, Feng Xie, Hongxia Chen, Jun Huang

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2013 Jun;110(26):10646-51.

 

The Bloom syndrome gene product, BLM, is a member of the highly conserved RecQ family. An emerging concept is the BLM helicase collaborates with the homologous recombination (HR) machinery to help avoid undesirable HR events and to achieve a high degree of fidelity during the HR reaction. ...

Last Updated: 26 Jun 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Bloom Syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Identification and analysis of new proteins involved in the DNA damage response network of Fanconi anemia and Bloom syndrome.
 

Author(s): Rong Guo, Dongyi Xu, Weidong Wang

Journal: Methods. 2009 May;48(1):72-9.

 

The use of co-immunoprecipitation (co-IP) to purify multi-protein complexes has contributed greatly to our understanding of the DNA damage response network associated with Fanconi anemia (FA), Bloom syndrome (BS) and breast cancer. Four new FA genes and two new protein partners for ...

Last Updated: 27 May 2009

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.