I’ve taken and I’m still taking Nicotinamide (vitamin b3). I’m not involved in the clinical trial based in London and it’s my choice to self medicate. It’s a inexpensive vitamin and has proven to elevate frataxin in a laboratory hence a phase 2 clinical trial is underway. The fact that this isn’t a drug, it’s vitamin b3, inexpensive, easily available and scientifically proven to elevate frataxin makes me continue to buy and take it. It costs £8.20 per bottle of 100. I take Solgar Nicotinamide 550mg as it’s a well established brand. I buy it from a store local to where I live http://www.nutritioncentre.co.uk/products/190-solgar-nicotinamide. I took 4 Nicotinamide a day for 3 weeks to see if my body was ok with it. I had no problem so took 8 a day for 3 months and still no problem. I now take 12 a day. I haven’t noticed a physical difference however, it does give me a healthy complexion and annually I have my heart monitored. My heart has improved in a written conclusion by my cardiologist.
Frataxin is present in your DNA and although Nicotinamide does elevate frataxin I don’t feel any different but I’m sure the frataxin within me does function better. I’ve been confined to a wheelchair for 17 years, I’m now 39 . A younger FA sufferer may have a different effect.
What is frataxin?
What is the official name of the FXN gene?
The official name of this gene is “frataxin.”
FXN is the gene’s official symbol. The FXN gene is also known by other names, listed below.
What is the normal function of the FXN gene?
The FXN gene provides instructions for making a protein called frataxin. This protein is found in cells throughout the body, with the highest levels in the heart, spinal cord, liver, pancreas, and muscles used for voluntary movement (skeletal muscles). Within cells, frataxin is found in energy-producing structures called mitochondria. Although its function is not fully understood, frataxin appears to help assemble clusters of iron and sulfur molecules that are critical for the function of many proteins, including those needed for energy production.
One region of the FXN gene contains a segment of DNA known as a GAA trinucleotide repeat. This segment is made up of a series of three DNA building blocks (one guanine and two adenines) that appear multiple times in a row. In most people, the number of GAA repeats in the FXN gene is fewer than 12 (referred to as short normal). Sometimes, however, the GAA segment is repeated 12 to 33 times (referred to as long normal).
How are changes in the FXN gene related to health conditions?
Friedreich ataxia - caused by mutations in the FXN gene
Friedreich ataxia results from an increased number of copies (expansion) of the GAA trinucleotide repeat in the FXN gene. In people with this condition, the GAA segment is abnormally repeated 66 to more than 1,000 times. The length of the GAA trinucleotide repeat appears to be related to the age at which the symptoms of Friedreich ataxia appear. People with GAA segments repeated fewer than 300 times tend to have a later appearance of symptoms (after age 25) than those with larger GAA trinucleotide repeats.
Most individuals with Friedreich ataxia have the expanded GAA trinucleotide repeat in both copies of the FXN gene. About 2 percent of people with this condition have an expanded GAA trinucleotide repeat in one copy of the FXN gene and a different kind of mutation in the other copy of the gene. In most of these cases, the other mutation changes a single DNA building block (nucleotide) within the FXN gene.
It is not fully understood how FXN gene mutations cause Friedreich ataxia. Mutations in this gene disrupt production of frataxin, greatly reducing the amount of this protein in cells. A shortage of frataxin appears to decrease the activity of proteins that contain iron-sulfur clusters, which could impair the production of energy in mitochondria. Cells with insufficient amounts of frataxin are also particularly sensitive to reactive molecules (free radicals) that can damage and destroy cells. Cells in the brain, spinal cord, and muscles that are damaged or have inadequate energy supplies may not function properly, leading to the signs and symptoms of Friedreich ataxia.
Where is the FXN gene located?
Cytogenetic Location: 9q21.11
Molecular Location on chromosome 9: base pairs 71,650,478 to 71,715,093
The FXN gene is located on the long (q) arm of chromosome 9 at position 21.11.
More precisely, the FXN gene is located from base pair 71,650,478 to base pair 71,715,093 on chromosome 9.