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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).
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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 ...
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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.
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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.
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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.
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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 ...
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Detailed information on single gene defects and patterns of inheritance Genes are what determine your traits, such as eye color and blood type. They are contained on our chromosomes, which normally number 46 (23 pairs) in each cell of our body. There are an estimated 25,000 genes contained on these 46 chromosomes. Genes are made of DNA. DNA is an acronym for deoxyribonucleic acid. DNA is made up of base pairs that code for certain proteins. So, ultimately, a gene, or a section of our DNA, makes a protein. There is also DNA in-between genes, which does not code for anything in particular, but simply serves as a "spacer." Therefore, not all of the DNA in our cells is used to make protein products.
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Detailed information on single gene defects and patterns of inheritance There are many different single gene defects that require clinical care by a physician or other healthcare professional. Listed in the directory below are some, for which we have provided a brief overview.
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