Bloom syndrome

Q82.882.8 - ICD-9 - 757.39757.39 - OMIM - 210900 - DiseasesDB - 1505 - MedlinePlus - 1505 - eMedicine
derm / 54
MeSH
D001816
Bloom Syndrome or Bloom-Torre Macheikik Syndrome is a rare autosomal recessive disease characterized by low patient growth and a predisposition to cancer [1] [2] [3] [4]. The cells of patients with Bloom syndrome exhibit strong genomic instability, in particular, frequent homologous recombination. The disease was discovered and first described by an American dermatologist Dr. David Bloom in 1954. [5]. Contents
1 Description
2 Relationship with cancer
3 Protein of Bloom syndrome
3.1 Interactions
3.2 Pathophysiology
4 Diagnosis
5 See also
6 References
7 Notes
Description
Bloom syndrome is a type of progeroid syndromes and shows a number of signs characteristic of this group of diseases: short growth and early developing rash on areas of skin in contact with sunlight. The skin rash is erythema, scleroderma and large-scale. With skin lesions in the nose and cheeks, the rash has a butterfly shape. The rash may also develop on other surfaces that come in contact with sunlight, such as the skin of your hands. Other clinical manifestations include: high voice; facial features such as a long, narrow face, micrognathia, and protruding nose and ears; hypo- and hyperpigmentation of the skin; scleroderma, which can occur both on the skin and in the eyes; moderate immunodeficiency associated with the lack of certain classes of immunoglobulins, which leads to an increased risk of pneumonia and ear infections; hypogonadism.
Complications of the disease can include chronic lung problems, diabetes, and learning disabilities. In a small number of patients, mental retardation is noted. The most significant complication is the increased risk of cancer.
Bloom syndrome is characterized by some phenotypes common to it with Fanconi anemia, which may be due to overlapping functions of mutant proteins associated with these diseases [6].
Relations with cancer
An increased mutation rate in Bloom syndrome leads to a high risk of cancer in patients [7]. The predisposition to cancer is characterized, firstly, by a wide range of types of cancer, including leukemia, lymphomas and carcinomas; secondly, the early age of tumor development, compared with the average age in a healthy population; third, plurality [8].
Bloom Syndrome Protein
Bloom Syndrome Protein - a protein encoded in humans by the BLM gene and which is not expressed in the presence of Bloom Syndrome [9].
The BLM gene product is bound with a subset of DExH box-containing helicase and has both DNA-stimulated ATPase activity and ATP-dependent DNA helicase activity. Mutations that cause Bloom syndrome alter or lead to the removal of a helicase motif and can completely eliminate 3 '→ 5' helicase activity. Normally, this protein may act as a suppressor of incorrect homologous recombination [10].
Interactions
The possibility of interaction with CHEK1, [11] Replication protein A1, [12] [13] [14] Werner syndrome has been demonstrated for the protein of Bloom syndrome ATP-dependent helicase, [15] RAD51L3, [16] Ataxia telangiectasia mutated, [17] [18] RAD51, [19] XRCC2, [16] Flap structure-specific endonuclease 1, [20] H2AFX, [11] TP53BP1, [11] FANCM, [21] P53, [11] [22] [23] [24] TOP3A, [12] [25] [26] [27] MLH1 [17] [26] [28] [29] and CHAF1A [30].
Pathophysiology
Patients with Bloom syndrome have an increased frequency of sister chromatid exchanges and, as a result, the chance of occurrence of chromosomal breaks and structural rearrangements of chromosomes [31]. Details of the mechanism linking molecular processes in which the Bloom Syndrome protein and chromosomes are involved are under study.
Bloom Syndrome has an autosomal recessive inheritance pattern.
Bloom Syndrome is inherited by an autosomal recessive mechanism. In a child with Bloom syndrome, both parents are asymptomatic carriers of a mutation in one allele of the BLM gene. The frequency of mutant gene carriers varies by population. For example, among descendants of Ashkenazi Jews, it is 1/100. The syndrome is manifested in both sexes, however, in women, the skin lesion is less severe than in men, so the disease may not be diagnosed as Bloom's syndrome. There is currently no reliable evidence that the symptoms of Bloom syndrome may vary depending on the type of mutation in the BLM gene.
Diagnosis
Genetic counseling and genetic analysis are recommended for families in which there may be carriers of Bloom syndrome. Families in which carrier status is reliably known can take advantage of prenatal testing using cytogenetic and molecular biological methods. Bloom's syndrome is diagnosed using any of three tests: by the presence of so-called metabolic chromatid aberrations (tetraradials) in blood lymphocyte cultures, and / or by an increased level of sister chromatid exchanges in cells of any type, and / or by the presence of a mutation in the BLM gene [32] .
See also - Aging (biology) - Progeria - References
↑ OMIM 210900
↑ James, William; Berger, Timothy; Elston, Dirk. Andrews' Diseases of the Skin: Clinical Dermatology. - 10th. - Saunders, 2005. - P. 575. - ISBN 0-7216-2921-0.
↑ (2000) “The Bloom's syndrome gene product promotes branch migration of holliday junctions”. Proceedings of the National Academy of Sciences of the United States of America 97 (12): 6504–8. DOI: 10.1073 / pnas. 100448097. PMID 10823897.
↑ Straughen, Je; Johnson, J; Mclaren, D; Proytcheva, M; Ellis, N; German, J; Groden, J (1998). "A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's syndrome gene." Human Mutation 11 (2): 175–8. DOI: 10.1002 / (SICI) 1098-1004 (1998) 11: 2 & lt; 175 :: AID-HUMU11 & gt; 3.0.CO; 2-W. PMID 9482582.
↑ Bloom D (1954). "Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs; probably a syndrome entity. " A.M.A. American journal of diseases of children 88 (6): 754–8. PMID 13206391.
↑ Deans AJ, West SC (December 2009). "FANCM connects the genome instability disorders Bloom's Syndrome and Fanconi Anemia." Mol. Cell 36 (6): 943-53. DOI: 10.1016 / j.molcel.2009.12.00.006. PMID 20064461.
↑ Amor-Guéret M (2006). "Bloom syndrome, genomic instability and cancer: the SOS-like hypothesis." Cancer Lett. 236 (1): 1–12. DOI: 10.1016 / j.canlet.2005.04.023. PMID 15950375.
↑ German J (1997). "Bloom's syndrome. XX. The first 100 cancers. " Cancer Genet Cytogenet 93 (1): 100–106. DOI: 10.1016 / S0165-4608 (96) 00336-6. PMID 9062585.
↑ Karow JK, Chakraverty RK, Hickson ID (January 1998). "The Bloom's syndrome gene product is a 3'-5 'DNA helicase." J Biol Chem 272 (49): 30611-4. DOI: 10.1074 / jbc.272.49.30611. PMID 9388193.
↑ Bloom syndrome. Genetics Home Reference. Nih. Retrieved March 19, 2013.
↑ 1 2 3 4 Sengupta, Sagar; Robles Ana I, Linke Steven P, Sinogeeva Natasha I, Zhang Ran, Pedeux Remy, Ward Irene M, Celeste Arkady, Nussenzweig André, Chen Junjie, Halazonetis Thanos D, Harris Curtis C (September 2004). "Functional interaction between BLM helicase and 53BP1 in a Chk1-mediated pathway during S-phase arrest." J. Cell Biol. 166 (6): 801–13. DOI: 10.1083 / jcb.200405128. ISSN 0021-9525. PMID 15364958.
↑ 1 2 Brosh, R M; Li J L, Kenny M K, Karow J K, Cooper M P, Kureekattil RP, Hickson I D, Bohr V A (August 2000). "Replication protein A physically interacts with the Bloom's syndrome protein and stimulates its helicase activity." J. Biol. Chem. 275 (31): 23500–8. DOI: 10.1074 / jbc.M001557200. ISSN 0021-9258. PMID 10825162.
↑ Opresko, Patricia L; von Kobbe Cayetano, Laine Jean-Philippe, Harrigan Jeanine, Hickson Ian D, Bohr Vilhelm A (October 2002). "Telomere-binding protein TRF2 binds to and stimulates the Werner and Bloom syndrome helicases." J. Biol. Chem. 277 (43): 41110–9. DOI: 10.1074 / jbc.M205396200. ISSN 0021-9258. PMID 12181313.
↑ Moens, Peter B; Kolas Nadine K, Tarsounas Madalena, Marcon Edyta, Cohen Paula E, Spyropoulos Barbara (April 2002). "The time course and chromosomal localization of recombination-related proteins at meiosis in the mouse are compatible with models that can resolve the early DNA-DNA interactions without reciprocal recombination." J. Cell. Sci. 115 (Pt 8): 1611–22. ISSN 0021-9533. PMID 11950880.
↑ von Kobbe, Cayetano; Karmakar Parimal, Dawut Lale, Opresko Patricia, Zeng Xianmin, Brosh Robert M, Hickson Ian D, Bohr Vilhelm A (June 2002). "Colocalization, physical, and functional interaction between Werner and Bloom syndrome proteins." J. Biol. Chem. 277 (24): 22035–44. DOI: 10.1074 / jbc.M200914200. ISSN 0021-9258. PMID 11919194.
↑ 1 2 Braybrooke, Jeremy P; Li Ji-Liang, Wu Leonard, Caple Fiona, Benson Fiona E, Hickson Ian D (November 2003). "Functional interaction between the Bloom's syndrome helicase and the RAD51 paralog, RAD51L3 (RAD51D)." J. Biol. Chem. 278 (48): 48357–66. DOI: 10.1074 / jbc.M308838200. ISSN 0021-9258. PMID 12975363.
↑ 1 2 Wang, Y; Cortez D, Yazdi P, Neff N, Elledge S J, Qin J (April 2000). "BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures." Genes Dev. 14 (8): 927–39. ISSN 0890-9369. PMID 10783165.
↑ Beamish, Heather; Kedar Padmini, Kaneko Hideo, Chen Philip, Fukao Toshiyuki, Peng Cheng, Beresten Sergei, Gueven Nuri, Purdie David, Lees-Miller Susan, Ellis Nathan, Kondo Naomi, Lavin Martin F (August 2002). "Functional link between BLM defective in Bloom's syndrome and the ataxia-telangiectasia-mutated protein, ATM." J. Biol. Chem. 277 (34): 30515-23. DOI: 10.1074 / jbc.M203801200. ISSN 0021-9258. PMID 12034743.
↑ Wu, L; Davies S L, Levitt N C, Hickson I D (June 2001). "Potential role for the BLM helicase in recombinational repair via a conserved interaction with RAD51." J. Biol. Chem. 276 (22): 19375–81. DOI: 10.1074 / jbc.M009471200. ISSN 0021-9258. PMID 11278509.
↑ Sharma, Sudha; Sommers Joshua A, Wu Leonard, Bohr Vilhelm A, Hickson Ian D, Brosh Robert M (March 2004). "Stimulation of flap endonuclease-1 by the Bloom's syndrome protein." J. Biol. Chem. 279 (11): 9847–56. DOI: 10.1074 / jbc.M309898200. ISSN 0021-9258. PMID 14688284.
↑ Deans, Andrew; Stephen West (December 24, 2009). "FANCM Connects the Genome Instability Disorders Bloom's Syndrome and Fanconi Anemia." Molecular Cell 36 (6): 943–953. DOI: 10.1016 / j.molcel.2009.12.00.006. PMID 20064461. Retrieved May 25, 2012.
↑ Wang, X W; Tseng A, Ellis N A, Spillare E A, Linke S P, Robles A I, Seker H, Yang Q, Hu P, Beresten S, Bemmels N A, Garfield S, Harris C C (August 2001). "Functional interaction of p53 and BLM DNA helicase in apoptosis." J. Biol. Chem. 276 (35): 32948–55. DOI: 10.1074 / jbc.M103298200. ISSN 0021-9258. PMID 11399766.
↑ Garkavtsev, I V; Kley N, Grigorian I A, Gudkov A V (December 2001). "The Bloom syndrome protein interacts and cooperates with p53 in regulation of transcription and cell growth control." Oncogene 20 (57): 8276–80. DOI: 10.1038 / sj.onc.1205120. ISSN 0950-9232. PMID 11781842.
↑ Yang, Qin; Zhang Ran, Wang Xin Wei, Spillare Elisa A, Linke Steven P, Subramanian Deepa, Griffith Jack D, Li Ji Liang, Hickson Ian D, Shen Jiang Cheng, Loeb Lawrence A, Mazur Sharlyn J, Appella Ettore, Brosh Robert M, Karmakar Parimal, Bohr Vilhelm A, Harris Curtis C (August 2002). "The processing of Holliday junctions by BLM and WRN helicases is regulated by p53." J. Biol. Chem. 277 (35): 31980–7. DOI: 10.1074 / jbc.M204111200. ISSN 0021-9258. PMID 12080066.
↑ Wu, L; Davies S L, North P S, Goulaouic H, Riou J F, Turley H, Gatter K C, Hickson I D (March 2000). "The Bloom's syndrome gene product interacts with topoisomerase III." J. Biol. Chem. 275 (13): 9636–44. DOI: 10.1074 / jbc.275.13.9636. ISSN 0021-9258. PMID 10734115.
↑ 1 2 Freire, R; d'Adda Di Fagagna F, Wu L, Pedrazzi G, Stagljar I, Hickson I D, Jackson S P (August 2001). "Cleavage of the Bloom's syndrome gene product during apoptosis by caspase-3 results in an impaired interaction with topoisomerase IIIα." Nucleic Acids Res. 29 (15): 3172–80. DOI: 10.1093 / nar / 29.15.3172. PMID 11470874.
↑ Hu, P; Beresten S F, van Brabant A J, Ye T Z, Pandolfi P P, Johnson F B, Guarente L, Ellis N A (June 2001). "Evidence for BLM and Topoisomerase IIIalpha interaction in genomic stability." Hum. Mol. Genet. 10 (12): 1287–98. DOI: 10.1093 / hmg / 10.12.1287. ISSN 0964-6906. PMID 11406610.
↑ Langland, G; Kordich J, Creaney J, Goss K H, Lillard-Wetherell K, Bebenek K, Kunkel T A, Groden J (August 2001). "The Bloom's syndrome protein (BLM) interacts with MLH1 but is not required for DNA mismatch repair." J. Biol. Chem. 276 (32): 30031-5. DOI: 10.1074 / jbc.M009664200. ISSN 0021-9258. PMID 11325959.
↑ Pedrazzi, G; Perrera C, Blaser H, Kuster P, Marra G, Davies S L, Ryu G H, Freire R, Hickson I D, Jiricny J, Stagljar I (November 2001). "Direct association of Bloom's syndrome gene product with the human mismatch repair protein MLH1." Nucleic Acids Res. 29 (21): 4378–86. DOI: 10.1093 / nar / 29.21.4378. PMID 11691925.
↑ Jiao, Renjie; Bachrati Csanád Z, Pedrazzi Graziella, Kuster Patrick, Petkovic Maja, Li Ji-Liang, Egli Dieter, Hickson Ian D, Stagljar Igor (June 2004). "Physical and Functional Interaction between the Bloom's Syndrome Gene Product and the Largest Subunit of Chromatin Assembly Factor 1." Mol. Cell. Biol. 24 (11): 4710–9. DOI: 10.1128 / MCB.24.11.4710-4719.2004. ISSN 0270-7306. PMID 15143166.
↑ German J, Schonberg S, Louie, and Chaganti R S. Bloom’s syndrome. IV. Sister-chromatid exchanges in lymphocytes. Am J Hum Genet. 1977; 29 (3): 248–255. PMID 868871
↑ Sanz, MM; German, J; Pagon, RA; Adam, MP; Bird, TD; Dolan, CR; Fong, CT; Stephens, K (1993). "Bloom's Syndrome." PMID 20301572.
Notes
Bloom’s Syndrome on GONUTS
Sanz MM, German J. Bloom's Syndrome. - ISBN NBK1398. In GeneReviews ™ [Internet] / Pagon RA, Bird TD, Dolan CR, et al .. - Seattle WA: University of Washington, Seattle, 1993–.
Blooms Connect - a forum by and for people with Bloom's Syndrome and their loved ones - Bloom's Syndrome Registry - research and information about Bloom's Syndrome
Bloom's Syndrome Foundation - devoted to medical & amp; scientific research to discover a treatment or cure for Bloom’s Syndrome - DNA Repair
Segmental Progeria
GeneReviews / NCBI / NIH / UW entry on Bloom Syndrome


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