Studying Two Rare Diseases Simultaneously Led to Novel Findings

Innovation and Collaboration

Macular telangiectasia type 2 (MacTel) is a rare eye disease that causes progressive vision loss as patients age.

Paul Bernstein is a physician at the John A. Moran Eye Center. He has worked on MacTel for over 15 years, attempting to uncover the genetic cause of this disease. He works in collaboration with the Lowy Medical Research Institute (LMRI). The Utah Center for MacTel Genetics is a part of the LMRI network which as a whole included over 30 different clinics globally.

Although Bernstein was working with 250 patients, it was just two who gave him the insight he needed. It was a father and his son who were both diagnosed with the condition. In addition, they both had hereditary sensory neuropathy type 1 (HSAN1) which is another rare disease. Long story short, Bernstein and his team found that the same genes that cause HSAN1 can cause MacTel. Their paper ultimately confirmed the first two known genes to cause MacTel and they believe it is only the start. This research was published in September In the New England Journal of Medicine.

They plan to continue their research and expect to find many more genes which are linked to the disease.

About The Research

The research team conducted exams on 10 individuals who had HSAN1 who weren’t related to the father and son they had first examined. Of these individuals, they found that 7 of them had MacTel as well. Since MacTel patients do not typically exhibit symptoms until middle age, those who had MacTel in this group but had not yet shown signs were all younger than 46.

The researchers examined these patients by using FLIO technology which can detect the ring within the macula that is characteristic of MacTel.

Further examining each condition, Bernstein and his colleagues found that the same gene mutations which caused the accumulation of toxic molecules in HSAN1 caused the damage to the macula in MacTel.  

Additionally, the team found that elevated levels of deoxySL in the body, which the MacTel patients showed, lead to a decrease in visual function. Likewise, low serine was found to have an impact. Previously, neither of these were known to impact the macular health of the eye.

What it Means and Further Investigations

This new discovery could improve the development of innovative treatments for patients. Additionally, it contributes to our understanding of other eye conditions besides MacTel such as diabetic retinopathy and systemic conditions.

The more we know and understand about the causes of a disease, the better insight scientists have on how to combat it.

For instance, fenofibrate, which is a drug typically used for combating high cholesterol, has shown potential for aiding in the treatment of MacTel. Researchers believe it could protect the retina from deoxySLs. In the future, they hope to more clearly articulate the role of deoxySLs, identify how the levels of deoxySLs become so elevated in MacTel patients, and find additional and more personalized treatment options.

You can read more about these innovative findings here.


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