New Study Gives Hopes To Patients With Friedreich’s Ataxia, A Rare Genetic Disease

New Study Gives Hopes To Patients With Friedreich’s Ataxia, A Rare Genetic Disease

A recently published study has discovered that skin cells harvested from patients which were diagnosed with Friedreich’s Ataxia, a rare genetic disease, are up to ten times more sensitive to ultraviolet A (UVA) radiation in comparison to those taken from healthy people.

The project, which has also implied the creation of a brand new molecule that could be added to the composition of advanced sun cream, may have a positive effect for those that are afflicted by Friedreich’s Ataxia and other diseases which involve mitochondrial iron overload, including Wolfram Syndrome and Parkinson’s disease.

The cellular damage which appears after exposure to UVA rays seems to be aggravated by the presence of excess free iron which can be found in the mitochondria. The increased amount of iron contributes to the formation of free radicals and some of them, among which we can count Reactive Oxygen Species, can damage DNA, leading to an increased risk of developing cancer.

A new study focused on Friedreich’s Ataxia, a rare genetic disease, gives hopes to patients

It is known that patients with Friedreich’s Ataxia feature a high level of free iron at a mitochondrial level. The study notes that the skin cells of these patients are very susceptible to UVA damage.

The custom molecule developed by the researchers will act as a mechanism able to gather the excess iron that can be found within mitochondria, effectively mitigating the potential sun damage that could appear due to UVA exposure. The researchers are now working on a method that will allow them to include this molecule in special sun creams.

According to one of the leading researchers involved in this study, the additional amount of iron can affect the mitochondria as a whole, leading to other issues since many of the vital functions of the cell can be compromised. Other environmental factors are also able to trigger oxidative damage, negatively affecting patients with Friedreich’s Ataxia.

The researchers hope to improve the quality of life for these patients and motivate others to work more on developing useful methods that can help people who battle a rare genetic disease and not only.


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