Barth syndrome: Difference between revisions
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Revision as of 18:11, 28 October 2008
| Barth syndrome | |
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| Specialty | Endocrinology  |
Barth syndrome (BTHS), also known as 3-Methylglutaconic aciduria type II and Cardiomyopathy-neutropenia syndrome is a rare genetic disorder classified by many signs and symptoms, including metabolism distortion, delayed motor skills, stamina deficiency, hypotonia, chronic fatigue, delayed growth, cardiomyopathy, and compromised immune system. It has been documented in greater than 30 males to date[1] [2]. Family members of the Barth Syndrome Foundation and its affiliates live in the US, Canada, the UK, Europe, Japan, South Africa, Kuwait, Australia. The syndrome is believed to be severely under-diagnosed and may be estimated to occur in 1 out of approximately 200,000 births.
The Syndrome was named after Dr. Peter Barth in the Netherlands for his research and discovery in 1983.[3] He described a pedigree chart, showing that this is an inherited trait.
Cause
Mutations in the BTHS gene, tafazzin (TAZ), are associated with cardiolipin molecules in the electron transport chain and the mitochondrial membrane structure. The gene is 6,234 bases in length, mRNA of 879 nucleotides, 11 exons/10 introns, and amino acid sequence of 292 with a weight of 33.5 kDa. It is located at Xq28;[4] the long arm of the X chromosome. Barth Syndrome is caused by 60% frameshift, stop, or splice-site alterations and 30% change in protein's charge. Barth syndrome is found exclusively in males.
Barth Syndrome Foundation
The Barth Syndrome Foundation in the US sponsors International Conferences for affected families attending physicians and scientists every two years. The next BSF Conference is presently in the planning stages for summer of 2008. For more information contact the Barth Syndrome Foundation, Inc. at http://www.barthsyndrome.org.
See also
- 3-Methylglutaconic aciduria
- noncompaction cardiomyopathy: mutations to the affected genes in Barth syndrome are also present here.
References
- ^ Spencer, C. T., Bryant, R. M., Day, J., Gonzalez, I. L., Colan, S. D., Thompson, W. R.; et al. (2006). "Cardiac and Clinical Phenotype in Barth Syndrome". Pediatrics. 118 (2): e337–346. doi:10.1542/peds.2005-2667. PMID 16847078.
{{cite journal}}: Explicit use of et al. in:|author=(help); Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ FOXNews.com - Teen Survives Five Heart Attacks, Is in Race Against Time - Health News | Current Health News | Medical News
- ^ Barth PG, Scholte HR, Berden JA; et al. (1983). "An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes". J. Neurol. Sci. 62 (1–3): 327–55. PMID 6142097.
{{cite journal}}: Explicit use of et al. in:|author=(help); Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D (1996). "A novel X-linked gene, G4.5. is responsible for Barth syndrome". Nat. Genet. 12 (4): 385–9. doi:10.1038/ng0496-385. PMID 8630491.
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External links
- http://www.barthsyndrome.org/ Barth Syndrome Foundation, headed by Shelley Bowen
- NINDS
- http://www.csun.edu/~hcbio033/barth.html
- http://www.hopkinsmedicine.org/cmsl/Barth_Summary.html
- http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Barth+Syndrome
it gives u a gaint wang