Autoimmune Warrior

Could Alzheimer’s Be an Autoimmune Disease?

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Prominent neurologist awarded grant to research Alzheimer’s as an autoimmune disease

Alzheimer’s is the most common cause of dementia; according to the Alzheimer’s Association, Alzheimer’s disease accounts for up to 80% of dementia cases.

Although little is still known about this disease, which causes significant loss of memory and other cognitive abilities, the most well-accepted hypothesis is that Alzheimer’s is caused by the build up of a protein called beta amyloid. When too much beta amyloid is accumulated in the brain, toxic clumps of the protein, called plaques, can form. These plaques are believed to be the culprit for Alzheimer’s; as a result, recent clinical trials have aimed to find a way to target and reduce the amount of plaques in the brain.

However, a prominent neurologist and medical researcher from Toronto, Ontario, Canada has put forth a new hypothesis on the development of Alzheimer’s. Dr. Donald Weaver theorizes that beta amyloid is actually a normal part of the brain’s innate immune system, and is there to kill bacteria and serve as a messenger protein. When the body’s immune response is triggered by an infection, trauma, or exposure to noxious substances, brain cells are triggered to release beta amyloid.

The problem arises, however, when beta amyloid mistakes brain cells for bacteria, and begins to kill these cells instead. This leads to fragments being created in the brain, which go on to trigger the continued release of beta amyloid. The result is a self-perpetuating cycle of releasing beta amyloid and killing more brain cells, resulting in a chronic disease.

Dr. Weaver’s theory on Alzheimer’s as an an autoimmune disease has garnered the attention of the medical community. He has been awarded the silver Oskar Fischer Prize, a grant worth US$400,000 from the University of Texas at San Antonio, to pursue research related to his theory.

Dr. Weaver believes that by exploiting the body’s natural way of controlling the immune system, Alzheimer’s symptoms can be reduced, and the disease could even be prevented. He commented, “If we accept the fact that Alzheimer’s disease is an immune-based disease that has certain triggers, then I think that we need to go back and revisit the risk factors.” Examples of risk factors include air pollution, head trauma, and genetic susceptibility.

Ultimately, Dr. Weaver’s research represents hope for a new way of tackling Alzheimer’s disease. Even more exciting is that Dr. Weaver’s research may have applicability beyond Alzheimer’s to other neurological conditions as well, such as Parkinson’s, Multiple Sclerosis (MS), and Encephalitis.

Jenny Hsieh, director of the University of Texas at San Antonio’s Brain Consortium, believes it’s important to provide researchers the opportunity to pursue ideas that are outside the box. “We just need people to be able to work on different ideas…because the bottom line is all of the current approaches to Alzheimer’s disease [are] not working.”

To learn more about Dr. Weaver and his work, visit: www.weaverlab.ca

Actress with Lupus Spreads Awareness for Autoimmune Disease

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In 2007, Maria Alejandra Hernandez was living her best life in New York City, working her dream job as an actress. However, she started to feel unwell, and generally tired and run down. She had a kidney biopsy done, but it didn’t lead to any answers. She recovered from the mystery illness, and went on to live her life.

Four years later at age 21, her health problems resurged with a vengeance.

“It started with a pain in my finger, I remember,” Hernandez explains. “I thought I probably bumped it or I’m just stressed out. It’s probably going to go away.”

However, the pain didn’t go away, and in fact continued to spread to her shoulders.

“The pain was so excruciating, I couldn’t even lift my hands,” she says. She was hospitalized for a month, while doctors performed a myriad of tests in an effort to diagnose the cause of her sudden pains.

She was eventually diagnosed with systemic lupus erythematosus. The autoimmune disease was causing her body’s own immune system to attack her joints, resulting in the unbearable pain in her fingers and shoulders. Shortly after, she started getting rashes on her face. Butterfly rash, which is a skin rash in the shape of a butterfly that appears across the nose and cheeks of lupus patients, is a hallmark symptom of the disease.

Hernandez admits that she knew nothing about lupus prior to being diagnosed. She explains, “I thought I could tell the doctor, okay, give me the medicine so I can just get better. Well, it doesn’t work that way!”

She recounts with emotion finding out that lupus is a life-long, chronic condition: “I remember one of the doctors telling to me that there was no cure; I felt like my life ended right there.”

While 90% of lupus patients are women, the symptoms can be completely different from person to person. Hernandez says that in addition to joint pain, fatigue, and skin rashes, she also experienced weight gain, hair loss, and kidney problems. At that point, she thought that her career as an actress would have to come to an end.

Lupus put a strain not just on Hernandez’ career, but on her relationship as well. At one point, the young woman told her husband that she likely wouldn’t be able to have children, and that he should find a new relationship to fulfill his dream of having kids.

“He said, ‘No way in hell!'” Hernandez laughs. Her husband stood by her side throughout her aggressive medical treatment. She now manages her symptoms with a combination of daily prescription medications and a healthy diet. Staying positive is also an important part of maintaining her mental health.

Hernandez said that her blood tests have shown promising results that her lupus is under control. As a result, she revealed that her and her husband are looking forward to starting a family of their own.

“For Warriors like myself, [becoming a parent] might take a little longer, but I’m not losing hope,” she declared. “If I hadn’t gone what I went through, I wouldn’t be here now, raising awareness [for lupus],” she said.

“Now, lupus doesn’t control me. But I’m using it to help [others].”

Maria can be found on Instagram at: @mariaalejandrahl. To learn more about Maria’s battle with lupus, visit the Today show YouTube channel.

Is There a Genetic Cause of Lupus?

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Gabriella Piqueras, a 16-year-old Spanish girl living with lupus.
Gabriella Piqueras is a 16-year-old girl living with lupus in Madrid, Spain. Her DNA may be the key to finding a genetic cause for this debilitating autoimmune disease. Image courtesy of El Pais.

Researchers have long pondered whether there is a genetic cause of systemic lupus erythematosus, known as lupus for short. Lupus is a systemic autoimmune disease that occurs when the body’s immune system attacks its own vital organs and tissues, resulting in widespread inflammation and debilitating symptoms. Now, researchers have discovered a genetic mutation in a young patient, whose DNA may be the key to finding a cure for the disease that affects at least 5 million people worldwide.

One Girl’s Case My Help Solve the Mystery

Gabriella Piqueras, a 16-year-old teen from Madrid, is the center of a new research study published in Nature magazine. Ever since Piqueras was five years old, she has suffered from debilitating symptoms, like constant bruising and bleeding beneath her skin. She was admitted to a hospital in Madrid for treatment, where she was diagnosed with lupus as the cause behind her painful symptoms.

Piqueras’ DNA was recently studied by Carola Garcia de Vinuesa, a leading immunologist at the Francis Crick Institute in London. In the study, it was discovered that she had a genetic mutation on her DNA that activates the TLR7 receptor in her cell’s membranes. This receptor activation normally causes immune cells to recognize and attack threatening viruses, but in Piqueras’ case, it causes her immune cells to attack her organs and tissues instead.

Discovering a Genetic Cause for Lupus

After discovering the genetic mutation in the patient’s cells, researchers modified the DNA of mice in a lab at Australian National University in Canberra. As a result, the mice went on to develop lupus. Lead researcher Garcia de Vinuesa commented on the study, saying: “It was already known that this receptor appeared to be activated in lupus patients, but no one knew if it was a cause, a consequence or a side effect of inflammation. Now we can show that it is the cause.”

The discovery of the TLR7 receptor as a genetic cause of lupus is significant. Not only does it show that genetics can lead to development of the disease, it could also explain why 90% of lupus patients are women. Garcia de Vinuesa explains that the instructions for making TLR7 are located on the X chromosome on our DNA. Since women have two X chromosomes on their DNA, and men only have one, women are significantly more likely to develop the disease.

Environmental Factors May Also Play a Role

Maria Galindo, a Madrid-based rheumatologist, states that although the study’s findings are important, it’s also important to consider the environmental causes of lupus as well. She explains that there is “a base of genetic susceptibility that, in the presence of external stimuli, triggers an exaggerated autoimmune reaction.” She concludes, “Everything indicates that the TLR7 pathway is very important, but it is not the only one.”

While more research is required to understand both the environmental and genetic factors behind lupus, this Spanish study sheds light on the chronic autoimmune disease that is often referred to as a ‘cruel mystery’. With more scientific research into lupus, more treatments can be developed to help the 5+ million people living with the disease worldwide. And for patients like Gabriella Piqueras, that could make all the difference.