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Encyclopedia > Barth syndrome

Barth 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 affects at least one hundred (~ 100) worldwide families. 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-diagonsed and estimated to occur in 1 out of approximately 200,000 births. A genetic disorder, or genetic disease, is a disease caused by abnormal expression of one or more genes in a person causing a clinical phenotype. ... It has been suggested that this article or section be merged with cell metabolism and carbohydrates. ... A motor skill is a skill required for proper usage of skeletal muscles. ...


The Syndrome was named after Dr. Peter Barth in the Netherlands for his research and discovery.


Mutations in the BTHS gene 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; 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. This article is about mutation in biology, for other meanings see: mutation (disambiguation). ... This stylistic schematic diagram shows a gene in relation to the double helix structure of DNA and to a chromosome (right). ... Cardiolipin (bisphosphatidyl glycerol) is an important component of the inner mitochondrial membrane, where it constitutes about 20% of the total lipid. ... The Electron Transport Chain. ... ... A nucleotide is an organic molecule consisting of a heterocyclic nucleobase (a purine or a pyrimidine), a pentose sugar (deoxyribose in DNA or ribose in RNA), and a phosphate or polyphosphate group. ... The X chromosome is one of the two sex-determining chromosomes in many animal species, including mammals (the other is the Y chromosome). ... Framing error is the following: Generally, a framing error is the result of reading a string of symbols which are grouped in blocks starting at the wrong point. ...


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 scheduled for early July, 2006 at Disney world in Orlando Fl. For more information contact the Barth Syndrome Foundation, Inc. at http://www.barthsyndrome.org.


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

  Results from FactBites:
 
Barth Syndrome - X-linked Cardiomyopathy and Neutropenia (4402 words)
Interestingly, although 3-methylglutaconic acid is known as an intermediate in the catabolism of the amino acid L-leucine, the excess 3-methylglutaconic acid in Barth syndrome appears to arise independent of the metabolism of leucine.
However, some severely affected Barth patients have no biochemical or histological evidence of mitochondrial dysfunction, and certain features of the syndrome, such as growth retardation and cyclic neutropenia, are not easily explained by the relatively mild degree of mitochondrial impairment in Barth syndrome.
Nevertheless, the incidence of Barth syndrome is almost certainly underestimated because infants and children who die acutely with a dilated cardiomyopathy are often assumed to have a viral myocarditis and may not always have a full metabolic evaluation.
Barth syndrome (67 words)
Barth syndrome is a rare disease caused by a sex-linked mutation.
The symptoms are weakness of the striated muscles, both skeletal and cardiac; weakness of the immune system; and failure to thrive.
Barth boys often die before they are five years old, but if they survive past that age, they are not likely to die from it.
  More results at FactBites »


 

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