Genetic Mutations of Macular Degeneration may Afflict Younger Patients

When it comes to macular degeneration there are genetic markers and then there are genetic mutations. The difference could determine whether or not someone may have the potential to develop the disease and integrate dietary/lifestyle changes to prevent it or if there are predisposed damaged or anomaly related gene mutations one could need a more aggressive approach against.

Genetic markers have been found showing an indication of potentially developing age-related macular degeneration or AMD. AMD is usually a slowly developing disease that afflicts millions of people mostly over the age of sixty-five. However, when a condition is found to be due to a gene mutation, age may not be a factor as the potential for rapid development could potentially afflict much younger patients and may not respond to the traditional treatment of macular degeneration vitamins.

New Research

Scientists have been studying macular degeneration for decades and have recently been able to utilize new technology, applications and combined research statistics to pinpoint its various causal factors.

In a recent study by researchers from The University of Manchester, two gene mutations were mapped using cryo-electron microscopy. These mutations were found to be at least two of the causes of X-linked Retinoschisis (XLRS), a genetic disease leading to a type of macular degeneration. This mutation affects the inner layers of the retina creating a split between them resulting in acute vision loss and eventual blindness in one out of five-thousand males.

According to Clair Baldock, Professor of Biochemistry at The University of Manchester and lead author of the research,

“We found that one disease-causing mutation sits in the interface between the octamer rings, causing retinoschisin to be less stable. The other mutation is on the propeller tip which we think is a novel interaction site for other binding proteins in the retina.”

8 Bladed Propellers

This mapping capability is a direct example of how technology continues to advance in scientific research for the betterment of human health. Using the deep freeze application of cryo-electron microscopy brought these two mutations to light, something that couldn’t have been done only a few years ago.

Interestingly, the designs and shapes researchers are now discovering show the continuing surprise of microscopic nature. It turns out that eight rings were discovered within the retina afflicted by XLRS. These rings, called octametric rings, each resemble an eight bladed propeller snuggly fit in-between the retinal layers. Truly an amazing shape according to researchers.

What It All Means

This discovery finally shows that these two mutations are the cause of XLRS. Now scientists must determine the cause and how they affect the development of macular degeneration.

A study of genetic susceptibility to AMD and how these complex disease traits work was published in Oxford Journal’s Human Molecular Genetics. It showed the importance of the future of this research concluding that,

“With all the genetic findings, it may soon be possible to provide pre-symptomatic diagnosis with reasonable accuracy, leading to better disease management strategies for high-risk individuals.”

The same goes for the case of gene mutations causing various macular degeneration presentations such as XLRS, which Health Canal reports,

“As well as identifying the mutations and precisely mapping their locations, the research team held out the possibility that future work could lead to genetic interventions and treatments, which could limit or prevent the damage caused by XLRS.”

Reversing Gene Mutations Naturally

Many scientists turn their nose up at natural attempts at reversing what they consider physically impossible to do, yet the remission rate of those who have tried is a factor. For instance, Life Extension reports of using chlorophyllin, a semi-synthetic, water-soluble form of the plant pigment chlorophyll, to battle the development of benzopyrene, a carcinogen responsible for various gene mutations.

Chlorophyllin has shown promise in reversing the debilitating effects of benzopyrene making it one of many attempts at reversing gene mutations naturally. Other possible applications include shark cartilage, lutein and zinc formulas. Talk to a licensed naturopathic doctor for a protocol that may work for you.

Gene mutations are becoming more commonplace given human evolution taking place alongside serious environmental and dietary pollutants. Although scientists seem to be chasing each mutation with slow success, it is possible that one day they may be able to pinpoint the development and manipulated demise of each. Yet, it is still important to protect yourself as much as possible by remaining skeptical and hyper vigilant in maintaining good health through avoiding environmental and dietary missteps that could lead to accumulation of serious, future conditions.