Who wants to grow old?
To lose one’s youthful look and vigor . . . and to spend one’s remaining days plagued by diseases which come with old age . . .
It’s a dreary feeling.
Now, imagine how it feels for a child who’s been stricken with Hutchinson-Gilford Progeria Syndrome. It’s a very rare genetic condition which causes children to age rapidly and often dying before they reach 15.
The condition is caused by a mutation in the gene called LMNA. This gene produces the lamin A protein, which supports the nuclear envelope that surrounds and protects the DNA of a eukaryotic cell and separates the nucleus from the cytoplasm. When LMNA produces defective lamin A proteins, it results to cellular instability. This mutation then leads to accelerated aging in progeria.
Symptoms of progeria start manifesting within a child’s first two years of life. Among the signs of this genetic disorder are slowed growth, hair loss, wrinkled skin, stiff joints, hip dislocation, skeletal abnormalities, hearing loss, and cardiovascular disease.
And just like in the case of many elderly people, these children die due to stroke or heart attack.
Progeria-afflicted kids were the reason why a team of experts from the Houston Methodist Research Institute (HMRI) conducted a study to find a cure for this rare genetic condition.
“When you see these kids, they’re like every other kid,” lead author and HRMI cardiovascular sciences department chair John Cooke said in an HRMI press release. “They want to play, they want to dream. They want to grow up and be something great. But they can’t do that. They don’t have the chance. That, alone, is reason enough to pursue this approach.”
Unlike other studies which concentrate on genetic mutation that causes progeria, the research focused on telomeres which might be a key to solving the problem. These essential part of human cells are located at the tip of every chromosome and appear to function as timekeepers of the cells. According to Cooke, the telomeres tend to get eroded and become shorter as a person ages.
In the case of kids with progeria, the researchers learned that their telomeres have also grown prematurely shorter.
The next thing the research team did was to find a way to extend the telomeres on sample cells from 17 patients with progeria. Through the technology of RNA therapeutics, they were able to make the cells produce a protein called “telomerase.” These proteins helped to extend and lengthen the telomeres, which might then stop the aging process.
“We looked at many cellular markers of aging and weren’t expecting to see such a dramatic effect on them,” Cooke said. “We markedly improved the ability of cells to multiply and reversed the production of inflammatory proteins. Those markers of cell aging we looked at were all reversed with the treatment in our study.”
The discovery brings forth hope not only to children with progeria, but the whole humanity. Now, there’s a way to slow down aging and extend lifespan that can be enjoyed with youthful beauty and vigor.
Based on the study’s results, the team is even more inspired to conduct a more in-depth research by applying the treatment on patients with progeria. Cooke is hopeful that they could soon come up with a therapy that would help these children regain the youth and quality of life that the genetic disorder has stolen from them.
The HMRI study was published in the Journal of the American College of Cardiology this August 2017.
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