Could These Rapidly Aging Cells in Fabry Disease be Reducing Patient Lifespan?

According to a story from Fabry Disease News, a recent study has found that certain cells tend to age more rapidly in patients with Fabry disease when compared to unaffected people. Fabry disease has a significant impact on lifespan, and researchers think that these cells could be a significant contributing factor. Telomeres are commonly used to assess age, and male patients had telomeres that looked older compared to females. Male patients are known to have shorter lifespans.

About Fabry Disease

Fabry disease is a rare genetic disorder that primarily affects the heart, skin, and kidneys. As a lysosomal storage disease, it is characterized by a deficiency in the enzyme responsible for processing sphingolipids, which accumulate in the body as a result. The disorder is caused by mutations of the GLA gene. Symptoms include pain (which can affect the extremities, the entire body, or the digestive tract), kidney dysfunction, abnormalities of the heart valve and heart rhythms, fatigue, inability to sweat, and angiokeratomas (small red dots that appear on the skin). Treatments include enzyme replacement therapy, treatments to address organ specific problems, and Galafold. Galafold is effective in roughly 50 percent of patients, and only works for patients with certain types of mutations. Enzyme replacement therapy can help partially halt or reverse disease progression. To learn more about Fabry disease, click here.

About The Study

Fabry disease, when untreated, can reduce a male patient’s lifespan by around 20 years on average, while female patients see reduction by only about five years. Researchers suggest that telomere analysis could help determine if a patient is at an elevated risk for progression of their disease.

Fabry disease is also associated with greater rates of both oxidative stress and inflammation, which play a role in the aging process. As a cell ages telomeres tend to become shorter; if it becomes too short, the cell becomes inactive and dies. Cells release an enzyme called telomerase which can supplement the telomere to prevent it from getting too short.

In a study of 33 patients, which included 20 women and 13 men, the telomeres of their leukocytes (a type of white blood cell) were compared to those of 66 unaffected volunteers. The scientists found that patients had shorter telomeres and had greater telomerase activity. Male patients had the shortest telomeres and didn’t have as much telomerase activity, suggesting they lacked sufficient telomerase to counteract their shorter telomeres. 

Patients with worse kidney function also had less telomerase activity. Overall, the findings suggest that leukocytes age more quickly in Fabry disease patients, particularly men, and that telomere length could be a significant biomarker for disease progression.

Look at the original study here.


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