There have been extreme improvements in genetic engineering over the past fifty years since it was pioneered in the 1970s. It has been used for the treatment of various diseases since its creation, and it is now being used to treat progeria. Spanish researchers at the Health Research Institute of of the Fundación Jiménez Díaz and the Autonomous University of Madrid (UAM) have been working with mice who have the mutated gene that causes progeria since 2003, and are now focusing on genetic therapy that would address the main symptoms of the disease.
About Progeria
Progeria, which is also known as Hutchinson-Gilford progeria syndrome, is a very rare, fatal, pediatric, genetic disease, and it resembles premature aging. While children are born without any signs of the disease, the onset of symptoms begin at early infancy. This disease is caused by a mutation on the LMNA gene, which is essential for the protein of the membrane that surrounds the nucleus. Because of the deficiency of this protein, the nucleus becomes unstable. Premature aging comes from this instability of the nucleus. While progeria is a genetic disease, it is not usually inherited. Instead it is the result of a random mutation. The first symptoms that appear are a localized scleroderma-like skin condition and failure to thrive. After these symptoms appear, other physical abnormalities begin to appear, such as prominent eyes, a thin nose, a small chin, protruding ears, hair loss, wrinkled skin, joint issues, and weight loss. As a child ages they will experience the hardening of arteries, which then leads to severe heart problems. At two years old, the physical abnormalities begin to become noticeable, which is usually when the disease is diagnosed. Special imaging tests can also be ordered to further investigate cardiovascular issues or skeletal abnormalities. While there is a drug, lonafarnib, that has been shown to treat progeria, it is not FDA approved. Because of this lack of approval, the only treatments for this disease are symptomatic.
New Research
The Researchers at the Health Research Institute of of the Fundación Jiménez Díaz and the Autonomous University of Madrid (UAM) have discovered an abnormal metabolic pathway that resulted in many of the symptoms of progeria. The Progeria Research Foundation has found a way to change this path back to its normal state, which is helpful not only for progeria, but for other diseases that are associated with this pathway, such as diabetes. In 2003, the gene that caused progeria was discovered and was successfully duplicated into a mouse model. Researchers have been using genetic testing with these mice in order to find a cure. While they must wait for advances in genetic technology, they are focusing on genetic engineering as a treatment.
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