New Variants in Alzheimer's Treatment

New Genetic Variants May Unlock Future Therapies for Alzheimer’s

By Contributing Writer Reena Jordyn

About five million — or 1 in 10 — Americans aged 65 and older have symptomatic Alzheimer’s disease (AD).

While there are medications that help slow down the development of cognitive symptoms, there’s no available treatment to prevent the disease’s progression altogether. AD has been around since the early 1900s, but research on the subject remains scarce. Previously, the National Institutes of Health (NIH) allocated less than $500 million for research focused on AD, less than half of the budget meant for research on other serious conditions like AIDS ($3 billion) and cancer ($5 billion).

Perhaps a number of other factors come into play, too, such as the gender and racial disparities of AD. Of over five million AD incidences in the U.S., two-thirds occur in women. Researchers point to women’s longevity as a major reason behind these figures. Additionally, women’s brain anatomy, function, and development may lend themselves to AD – women’s brains accumulate greater tangle burden than men’s. Furthermore, African-American women, in particular, are twice more likely to acquire AD and other forms of dementia compared to their white peers. Similarly, Hispanic women are also more predisposed to AD, the risks being one and a half times greater than in white women. Differences in health, lifestyle, education, physical activity, and socioeconomic factors are thought to be contributory factors. These disparities and their ensuing bias could’ve been limitations for earlier research— luckily, we’re experiencing societal and scientific progress like never before.

Discovering the Klotho and RBFOX1 Variants
Much of what we know today points to genes playing a major part in the disease’s development. Over three decades ago, scientists have found the gene variant ApoE4 as a main contributor to Alzheimer’s. The prevalence of copies of this gene increases the risk for AD. A recent study by Stanford University School of Medicine investigators discovered a new gene variant that could help stave off AD: klotho. The researchers contrasted the likelihood of AD development in subjects with a single copy of the klotho variant against those without. The results revealed that those carrying one copy of the klotho variant had a 30% lower risk of developing AD. It was found that a single copy of klotho substantially slowed the progression of cognitive symptoms and impairment. And klotho was also seen to lower the beta-amyloid burden in ApoE4 carriers, helping mitigate the onset of dementia.

Another study by Timothy Hohman of Vanderbilt University Medical Center and Richard Mayeux of Columbia University Medical Center was able to link a new gene variant to AD. Hohman and Mayeux were able to unearth RBFOX1, a gene variant localized around plaques and in dystrophic neurites, which present heavily in people with AD. This revelation could lead to more advances in gene-specific therapy and precision medicine.

What’s Next for AD Treatment?
Increased awareness about the disease, coupled with stronger support, enables more scientists to conduct more in-depth studies on AD. However, the success of these investigations relies on strong and vast databases, and skilled genetic specialists.

The field needs more scientists, doctors, nurses, and other healthcare professionals to cast a wider scope. A top nursing career particularly relevant to this field is genetics nursing. Professionals in this field are in a unique position where they can assist patients suffering from genetic diseases as well as conduct genetic-related research simultaneously. This gives them an invaluable viewpoint of the disease, making them ideal researchers and great educators to patients and their carers too. That being said, AD patients, people predisposed to AD, and even the everyday person should be as proactive as those in the field. You can easily do your part by connecting your personal health records with the LunaDNA platform. By doing so, you give researchers access to genetic and lifestyle data, among other pertinent information, which could thrust health discovery even further.

Every step and every grain of information gained is a huge step forward for Alzheimer’s research. In time, there may even be a medication that could present a cure for the dreaded disease.

New Ideas Emerge in Alzheimers

New Ideas Emerge in Alzheimer’s Research

Take a look at any recent major news publication. Information about the latest scientific discovery or technological advancements can be found in nearly every issue.

Yet for a disease that currently affects over 5 million Americans and is projected to affect almost 14 million by 2050, shockingly little progress has been made toward effective treatment, let alone a cure. Alzheimer’s disease has perpetually puzzled researchers and healthcare providers alike, leaving the millions of people affected by the disease to wonder if there is any hope. 

Alzheimer’s disease (AD) is a multifactorial condition. This means no one single cause is responsible for development of the disease. While there are clearly both genetic and environmental contributions, the specific cause or tipping point likely varies from person to person. This fact alone makes identifying a silver bullet treatment plan very difficult. How do you effectively target a disease with a single treatment if the disease has multiple and varying causes? Additionally, AD can be challenging to diagnose, especially in the early stages of disease when available treatments may be the most beneficial. Many dementias look similar, although their underlying causes may vary dramatically. The lack of apparent progress towards treatments to slow progression and a prevention or cure could certainly be attributed to this combination of factors, at least in part.

Why is there not a cure for Alzheimer’s yet?

Although diagnosis and treatment of AD face a variety of challenges, there has been a significant amount of research focused on potential treatments and possible cures. 

Researchers were confident a treatment would be identified within mere decades. Unfortunately, the research performed, and subsequently published, all centered around the single, prevailing theory that beta-amyloid accumulation was the target. A recent investigative report published by STAT described how research that explored ideas outside this commonly held belief was discounted, unpublished and in some cases ended the careers of researchers desperate to find answers. Opportunities for novel discoveries, breakthroughs and unpopular hypothesizes rarely emerged due to this tunnel vision within the AD-research landscape. 

But can the lack of AD treatment or cures be solely placed on the shoulders of research suppression? Likely no. Funding for AD research has historically been significantly lower than many other common diseases. Until recently, National Institutes of Health (NIH) budgeting provided less than $500 million for research focused on AD and other dementias. In comparison, funding for AIDS research neared $3 billion and cancer research received more than nearly
$5 billion in funding. 

The funding disparity is fortunately lessening as significant increases in the NIH budget for AD have been made in recent years. Community-supported fundraising campaigns like the annual Walk to End Alzheimer’s are also a growing source of not only fundraising, but awareness of the disease. 

In light of these recent advances, it is easy to see how the combination of novel research suppression with lack of funding certainly contributed to the absence of significant discoveries over the past several decades. 

New ideas emerge in Alzheimer’s research

Fortunately, research focusing on different treatment targets is beginning to emerge. Scientists are now recognized and supported for their work around ideas that years ago would have been ignored at best, stifled at worst. Currently, there is early-stage research evaluating exciting and promising ideas, such as the use of vaccines to aid in prevention and gene therapy to help alleviate symptoms. And data collection focused on the variety of potential risk factors can also be used in a more person-centered way given the recent advances in daily health monitoring tools. 

Similarly, while there is limited scientific evidence, researchers continue to explore links between herbs with anti-inflammatory and antioxidant properties like turmeric on disease prevention and progression. 

Yet more is needed for research, and the missing piece may just be you. You as the patient. You as the caregiver. You as the unaffected. You can help advance discoveries in Alzheimer’s disease.

Dawn Barry, Board Chair of the Alzheimer’s Association San Diego/Imperial Chapter and LunaPBC™ Co-Founder and President explains “we must start getting everyone involved in research. Not just people affected but everyone in the ecosystem.” This is why LunaDNA is so passionate about providing you a safe and trusted place to partner with researchers.

“Your data is never sold to third parties and you always have the option of ‘unsharing’ your information,” Barry says. LunaDNA™ also provides a way to overcome the challenge of retrospective research, where data is only obtained after the disease has developed. Barry argues a better approach is to begin collecting information earlier, as “we have the best chance of finding markers if we begin to study and track health before disease onset happens.” 

Without people who are willing to participate, research would simply not exist. If you or someone you love is affected with AD, consider if research participation is right for you. 

The combination of increased patient and community participation, funding and the scientific community’s acceptance of a wider variety of research ideas is promising. Many are optimistic this combination of factors will finally move us closer to finding legitimate treatments for AD.  And perhaps these treatment breakthroughs will lead to the cure so desperately desired by the millions of people affected by AD every day.