Saturday, October 5, 2013

Genetic condition that attacks the heart, brain, and nerves diagnosed using new MRI technique

Lysosome with sphingolipids 


Fabry Disease

 What was once classified as a rare disease, is now becoming an epidemic in 1 in 1500 to 3000 people of Alberta, Canada. This disease is called Fabry disease. According to the Faculty of Medicine and Dentistry, “Fabry disease is a genetic metabolic condition that destroys the enzyme involved in fat metabolism.” When fat deposits accumulate in the body, it affects the heart, kidneys, and brain. Gavin Oudit had stated, “heart disease is the number one cause of death for patients with Fabry disease.” When you use an MRI or ultrasound to detect whether or not your body has been affected from the disease, sometimes this condition could look like other diseases. Richard Thompson and Kelvin Chow have developed a new system that better detects the damages and changes in early stages. This new MRI technique is called T1 mapping. The difference between T1 mapping and MRI/ultrasound is the scans can detect both the disease and severity of damage to the heart. This new technique can easily be programmed into MRI systems around the world and hopefully provide other advancements to detect other disease conditions.



http://www.geneticdiseasefoundation.org/genetic-diseases/fabry-disease/?_kk=fabry%20disease&_kt=accdb0de-692e-4bce-8e8d-02be219b6310&gclid=CL6M95jSgLoCFYOk4Aod8QwAUQ
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1 comment:

  1. AnonymousOctober 29, 2013 at 8:03 PM

    Metabolism is important because it is literally the powerhouse of the body, providing energy to keep the body going. Without metabolism, living organisms will die, and errors in metabolic processes can cause health problems. Since Fabry disease is classified as the genetic metabolic condition that destroys the enzyme involved in fat metabolism, the buildup of fat has huge effects on the heart, brain, and kidneys. Now that it's becoming an epidemic, it's great to see that there is hope for new MRI techniques with this discovery of T1 mapping. Hopefully systems around the world update to this new technique so that both the disease and severity of the damage to the heart can be scanned and I hope that it does help with detecting other diseases!

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