Bloom Syndrome (Syndrome, Bloom)

An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.

Also Known As:

Networked: 186 relevant articles (1 outcomes, 6 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Neoplasms (Cancer)
2.	Werner Syndrome (Werner's Syndrome)
3.	Genomic Instability
4.	Epidermolytic Hyperkeratosis (Bullous Congenital Ichthyosiform Erythroderma)
5.	Adult T-Cell Leukemia-Lymphoma (Leukemia Lymphoma, T Cell, Acute, HTLV I Associated)

Experts

1.	Bohr, Vilhelm A: 6 articles (05/2013 - 06/2002)
2.	Brosh, Robert M: 6 articles (01/2011 - 06/2002)
3.	McVey, Mitch: 5 articles (01/2011 - 01/2003)
4.	Hickson, Ian D: 4 articles (07/2014 - 06/2002)
5.	Sommers, Joshua A: 4 articles (01/2011 - 01/2005)
6.	Ellis, Nathan A: 4 articles (10/2008 - 05/2005)
7.	Berneburg, M: 3 articles (12/2012 - 12/2006)
8.	Machwe, Amrita: 3 articles (08/2011 - 01/2006)
9.	Orren, David K: 3 articles (08/2011 - 01/2006)
10.	Xu, Dongyi: 3 articles (09/2010 - 05/2009)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Bloom Syndrome:

1.	DNA (Deoxyribonucleic Acid)IBA 07/20/2015 - "Based on its in vitro unwinding activity on G-quadruplex (G4) DNA, the Bloom syndrome-associated helicase BLM is proposed to participate in telomere replication by aiding fork progression through G-rich telomeric DNA. " 07/08/2014 - "BLM binds to G-quadruplex (G4) DNA, and G4 motifs were enriched at transcription start sites (TSS) and especially within first introns (false discovery rate ≤ 0.001) of differentially expressed mRNAs in Bloom syndrome compared with normal cells, suggesting that G-quadruplex structures formed at these motifs are physiologic targets for BLM. " 01/01/2011 - "Loss of the bloom syndrome helicase increases DNA ligase 4-independent genome rearrangements and tumorigenesis in aging Drosophila." 09/15/2010 - "Rif1 provides a new DNA-binding interface for the Bloom syndrome complex to maintain normal replication." 11/01/2009 - "Removal of the bloom syndrome DNA helicase extends the utility of imprecise transposon excision for making null mutations in Drosophila."
2.	DNA ligase IIIIBA 12/11/1995 - "XRCC1-His interacted equally well with DNA ligase III from Bloom syndrome, HeLa and MRC5 cells, indicating that Bloom syndrome DNA ligase III is normal in this respect. " 11/25/1993 - "DNA ligase III is the major high molecular weight DNA joining activity in SV40-transformed human fibroblasts: normal levels of DNA ligase III activity in Bloom syndrome cells." 10/01/1995 - "The DNA ligase III gene was localized to human chromosome 17, which eliminated this gene as a candidate for the cancer-prone disease Bloom syndrome that is associated with DNA joining abnormalities. "
3.	Pyruvate KinaseIBA 05/28/2010 - "This study was designed to understand the mechanism and functional implication of the two heterozygous mutations (H391Y and K422R) of human pyruvate kinase M2 isozyme (PKM(2)) observed earlier in a Bloom syndrome background. " 07/01/2004 - "The natural mutations observed in pyruvate kinase (PK)-M2, a homotetramer isozyme, in this study correlated with the differential activity of the enzyme in a dominant negative manner in B-lymphoblastoid cells, established from two Bloom syndrome (BS) patients, BS1 and BS3 by 50 and 90%, respectively; and by 75% in the freshly obtained PHA stimulated lymphocytes of a BS patient diagnosed for the first time in India. " 05/01/2009 - "In this study, we attempted to understand the mechanism of regulation of the activity and allosteric behavior of the pyruvate kinase M(2) enzyme and two of its missense mutations, H391Y and K422R, found in cells from Bloom syndrome patients, prone to develop cancer. " 05/01/2009 - "Although this study signifies the importance of conserved amino acid residues in long-range communications between the subunits of multimeric proteins, the altered behavior of mutants is suggestive of their probable role in tumor-promoting growth and metabolism in Bloom syndrome patients with defective pyruvate kinase M(2)."
4.	Proteins (Proteins, Gene)IBA 07/01/2012 - "While much insight has been gained into the function of the Werner (WRN) and Bloom syndrome proteins (BLM), little is known about RECQL5. " 11/28/2006 - "The Werner and Bloom syndrome proteins catalyze regression of a model replication fork." 06/14/2002 - "Colocalization, physical, and functional interaction between Werner and Bloom syndrome proteins." 12/15/1999 - "The three-dimensional structure of the HRDC domain and implications for the Werner and Bloom syndrome proteins." 10/18/1999 - "We identified the adapter protein Daxx and BML, the RecQ helicase missing in Bloom syndrome, as new ND10-associated proteins. "
5.	Carbon MonoxideIBA 05/01/2009 - "Four new FA genes and two new protein partners for the Bloom syndrome gene product have been identified by co-IP. " 05/01/1986 - "Cell cycle progression and SCE rate of Bloom syndrome cells with/without co-cultivation in the presence/absence of normal cells." 03/01/1980 - "Six strains of Bloom syndrome (BlS) fibroblasts responded to co-cultivation with normal fibroblasts at a 1:2 ratio by a reduced rate of sister chromatid exchanges (SCE's) from a mean of 67.5 (range = 59--78) to 28.4 (range = 21--35). " 03/01/1980 - "Rate of sister chromatid exchanges in Bloom syndrome fibroblasts reduced by co-cultivation with normal fibroblasts." 04/01/1983 - "The present study describes the establishment of T-cell lines from the peripheral blood of two Bloom syndrome (BS) patients and one healthy female by co-cultivation with a lethally irradiated human T-cell line (MT-2) carrying adult T-cell leukemia (ATL) virus (ATLV). "
6.	EnzymesIBA 02/02/2001 - "In addition to their activity in unwinding duplex substrates, recent studies show that the two enzymes are able to unwind G2 and G4 tetraplexes, prompting speculation that failure to resolve these structures in Bloom syndrome and Werner syndrome cells may contribute to genome instability. " 06/01/2008 - "Defects to these enzymes are responsible for three distinct human diseases: Werner syndrome, Bloom syndrome and Rothmund-Thomson syndrome. "
7.	Keratin-10IBA 08/01/2002 - "A study of the keratin 10 deficient mouse, a model for epidermolytic hyperkeratosis, and a mouse model for Bloom syndrome are reviewed in this article. "
8.	RecQ HelicasesIBA 01/01/2015 - "Two RecQ helicases, RECQL5 and Bloom syndrome mutated (BLM) suppress HR through nonredundant mechanisms. " 07/01/2014 - "Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3 helicase. " 09/08/2010 - "BLM, the protein product of the gene mutated in Bloom syndrome, is one of five human RecQ helicases. " 01/01/2015 - "To better understand PQS transcriptional effects, we analyze PQS motifs in genes differentially-transcribed in Bloom Syndrome (BS) and Werner Syndrome (WS), two disorders resulting in loss of PQS-interacting RecQ helicases.  We also correlate PQS genome-wide with transcription in multiple human cells lines while controlling for epigenetic status.  Finally, we perform neural network clustering of PQS motifs to assess whether certain motifs are over-represented in genes sensitive to RecQ helicase loss. " 07/29/2005 - "Although the biochemical properties and protein interactions of the WRN and BLM helicases defective in Werner syndrome and Bloom syndrome, respectively, have been extensively investigated, less information is available concerning the functions of the other human RecQ helicases. "
9.	TrichothiodystrophyIBA 12/01/1996 - "Other phenotypically distinctive disorders caused by different helicase mutations include Bloom syndrome, Cockayne syndrome, xeroderma pigmentosum and trichothiodystrophy. " 01/01/2014 - "Mutation in DNA repair genes may results in rare genetic disorders, including Xeroderma pigmentosum, Cockayne syndrom, trichothiodystrophy, Nijmegen syndrome, ataxia teleangiectasia, Werner syndrome, Bloom syndrome, Rothmund-Thomson syndrome. " 01/01/2003 - "Inherited conditions due to mutations in DNA repair genes include mainly: xeroderma pigmentosum, Cockayne syndrome, Trichothiodystrophy, Bloom syndrome, Rothmund-Thomson syndrome, and Werner syndrome. " 06/01/2000 - "The principal diseases in this group having a diverse etiology and clinical manifestations include Fanconi anemia (FA), ataxia telangiectasia (AT), Nijmegen breakage syndrome (NBS), Bloom syndrome (BS), xeroderma pigementosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD). " 12/01/2012 - "There are several hereditary diseases which are known to go along with genetic defects of DNA repair mechanisms comprising Xeroderma pigmentosum (XP), Cockayne syndrome (CS), Trichothiodystrophy (TTD), Werner syndrome (WS), Bloom syndrome (BS), Fanconi anemia (FA) and Ataxia telangiectasia (AT). "
10.	Bromodeoxyuridine (BrdU)IBA 03/01/1987 - "Bloom syndrome high SCE cells probably do not follow the same bromodeoxyuridine (BrdU) uptake pattern over three cell cycles as normal cells. " 01/01/1987 - "SCE levels in Bloom-syndrome cells at very low bromodeoxyuridine (BrdU) concentrations: monoclonal anti-BrdU antibody." 07/01/1983 - "When Bloom syndrome (BS) cells labeled with bromodeoxyuridine (BrdUrd) for one round of DNA replication were fused with nonlabeled normal cells, the hybrid cells had a normal level of sister chromatid exchange (SCE) at the first mitosis after fusion. " 07/01/1983 - "Analyses of bromodeoxyuridine-associated sister chromatid exchanges (SCEs) in Bloom syndrome based on cell fusion: single and twin SCEs in endoreduplication." 03/01/1988 - "Disparate effects of 5-bromodeoxyuridine on sister-chromatid exchanges and chromosomal aberrations in Bloom syndrome fibroblasts."

Therapies and Procedures

1.	Radiotherapy 04/01/2013 - "Bloom syndrome is a DNA repair disorder that is hypersensitive to radiotherapy. "
2.	Aftercare (After-Treatment) 01/01/1983 - "The gene locus assignments were taken from a recent review (McKusick 1982); the chromosomal distances were those estimated by Hager et al. (1982) from the frequencies of reunion figures between specific chromosomes as observed in chromosome instability syndromes (Fanconi anemia, Bloom syndrome) and after treatment with Trenimon. "