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Friedreich Ataxia Learning Center
Causes could include:
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Gene Abnormality
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Friedreich's ataxia is caused by a defect in a gene called Frataxin (FXN), which is located on chromosome 9. Changes in this gene cause the body to produce too much of part of DNA called trinucleotide repeat (GAA). Normally, the body contains abou...
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FA is an autosomal recessive disease, which means that two defective gene copies must be inherited to develop symptoms, one from each parent. A person with only one defective gene copy is called a carrier and will not show signs of FA, but has a 5...
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The gene for FA codes for a protein called frataxin. Normal frataxin is found in the cellular energy structures known as mitochondria, where it is thought to be involved in regulating the transport of iron. In FA, the frataxin gene on chromosome 9...
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FRDA is an autosomal recessive condition, which means that an affected individual has two altered or nonfunctioning FRDA1 genes, one from each parent. The FRDA1 gene is located on chromosome 9 and codes for a protein called frataxin. The most comm...
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The gene for FA codes for a protein called frataxin. Normal frataxin is found in the cellular energy structures known as mitochondria, where it is thought to be involved in regulating the transport of iron. In FA, the frataxin gene on chromosome 9...
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FA is an autosomal recessive disease, which means that two defective gene copies must be inherited to develop symptoms, one from each parent. A person with only one defective gene copy is called a carrier and will not show signs of FA, but has a 5...
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