Alzheimer’s Disease Latest Info

An international research team has identified a new and rare genetic variant that may delay symptoms of Alzheimer’s disease for decades. Led by Harvard Medical School investigators at Massachusetts General Hospital and Massachusetts Eye and Ear, the team discovered while studying families in Colombia that carry a gene known to cause Alzheimer’s disease.

Previous studies have found that people who inherit specific faulty genes are almost guaranteed to develop Alzheimer’s disease symptoms in their 30s to early 50s. However, the patient with the newly identified genetic variant did not develop memory problems until his late 60s, according to the study published in the Nature Medicine journal in May.

In 2019, the same research team studied a woman from the same family who had no cognitive symptoms until she was in her 70s. The team discovered that the woman had two copies of another rare gene variant called the Christchurch variant—named after the city in New Zealand where the mutation was first discovered. Researchers believed the Christchurch variant was responsible for protecting her brain by slowing down the progression of Alzheimer’s.

The investigators also noted that both family members had extensive amyloid plaques but very few neurofibrillary tangles. Since the 1990s, scientists have suspected that the accumulation of amyloid plaques, found in the tissue between nerve cells in the brain, and neurofibrillary tangles, primarily made up of a protein called tau, was a primary cause of Alzheimer’s disease.

Steven DeKosky, a professor of neurology and neuroscience at the University of Florida, said the team’s discovery suggests that the neurofibrillary tangles are responsible for cognitive loss. Still, the protective gene variants can suppress some tangles and drastically slow cognitive decline.

“These findings demonstrate that Alzheimer’s can be slowed and will hopefully lead to additional new therapies that can someday not only treat the disease but prevent it as well,” DeKosky wrote in an article for The Conversation.

Hispanics/Latinos Underdiagnosed For Alzheimer’s and Underrepresented in Clinical Trials

Older Hispanic adults have a 1.5 times higher risk of developing Alzheimer’s disease and other dementias than older white people. Yet, the disease is underdiagnosed in the community, according to the Alzheimer’s Association.

As a result, Hispanic and Latino older adults could be “exhibiting higher levels of behavioral and psychological symptoms” by the time they are diagnosed, Maria Aranda, executive director of the USC Edward R. Roybal Institute on Aging, told ABC News.

Dr. Zaldy Tan, a memory and geriatric medicine specialist and director of the Cedars-Sinai Health System, told ABC News that there is “no clear answer as to why Hispanics are more at risk of Alzheimer’s disease.” It’s most likely a combination of socioeconomic factors and rates of underlying illnesses like high blood pressure and diabetes, Dr. Tan said. In addition, Alzheimer’s is also difficult to detect.

“It can take the form of forgetting to pick up something from the grocery, it could take the form of forgetting to pick up your kids after school,” Dr. Tan said. “It’s very subtle in the beginning.”

ABC-owned television stations, in partnership with ABC News, produced an hour-long special focusing on the alarming data of Alzheimer’s disease from the perspective of the Hispanic and Latino communities. Evelin Miranda was Featured on the program, she said she noticed that her husband, Eddie, had started picking her up from work late, and her son told her that Eddie was paying bills late.

“Things just weren’t getting better,” Miranda said. “I was saying to myself, well, there’s something wrong.”

In 2018, Eddie was diagnosed with Alzheimer’s disease, and he still lives at home. Evelin says she is familiar with Alzheimer’s disease because she has a nursing background. But being a full-time caregiver for a family member is entirely different.

“You never expect it in your own home, with your own loved one, your partner, that you share your whole self to,” Miranda said.

Older adults in the Hispanic and Latino community are also less likely to participate in research studies involving Alzheimer’s and other dementias.

“Clinical trials come in two different types. You have pharmacological trials —those geared towards drugs—and those not geared towards drugs, the lifestyle interventions,” Christian Salazar, a research scientist at the UC Irvine Institute for Memory Impairments and Neurological Disorders, told ABC News.”We need Hispanic participation in both of these types of clinical trials because, without them, we won’t know how to intervene.”

Groups Advocate For Involvement of Individuals With Down Syndrome in Clinical Trials For Alzheimer’s Disease Treatments

Pharmaceutical companies are developing new drugs to treat Alzheimer’s disease. Still, people with Down syndrome are not involved in clinical trials for these treatments, according to advocates for people with Down syndrome. Yet, Alzheimer’s disease is the most common cause of death for people with Down syndrome.

Hampus Hillerstrom and his wife, Lianor da Cunha are fighting for people with Down syndrome to participate in clinical trials for new Alzheimer’s treatment drugs. The Lexington, Massachusetts, couple’s 9-year-old son, Oskar has Down syndrome, a condition that Lianor said her aunt Teresa, who lived in Portugal, had. Lianor said her aunt died of Alzheimer’s disease at the age of 60.

“The goal is to ensure we get access,” Hampus Hillerstrom told Reuters. Hillerstrom is the CEO of LuMind IDSC Foundation, which works to accelerate Down syndrome research. “Ideally, we needed to be part of these trials from the beginning.”

Reuters, however, interviewed five top neurologists who recommended against people with Down syndrome taking untested drugs that may cause unexpected health problems.

Earlier this year, the U.S. Food and Drug Administration (FDA) approved Leqembi, an Alzheimer’s treatment drug manufactured by Eisai Co., Ltd. and Biogen Inc. At the same time, Eli Lilly, another major drugmaker, applied for full FDA approval of its Alzheimer’s treatment drug, Donanemab.

Clinical trials for both Leqembi and Donanemab have shown that removing beta-amyloid can slow cognitive decline in people in the early stage of Alzheimer’s. Patient advocates and three neurologists interviewed by Reuters believe the same may be true of people with Down syndrome.

The drugs, however, can cause bleeding and swelling in the brain, a risk that is particularly significant in people with cerebral amyloid angiopathy (CAA). This condition affects almost half of Alzheimer’s patients. CAA was associated with one death in an extended portion of Eisai’s main Leqembi trial. Due to the higher-than-average incidence of CAA in people with Down syndrome, neurologists are worried that eliminating amyloid may weaken arterial walls and cause bleeding in the brain.

Nonetheless, Emily Largent, a bioethicist and health policy expert at the University of Pennsylvania Perelman School of Medicine, said people with Down syndrome should be allowed to weigh the risks and benefits of treating a fatal disease, which she referred to as “the dignity of risk.”

Source Links:

https://theconversation.com/alzheimers-disease-is-partly-genetic-studying-the-genes-that-delay-decline-in-some-may-lead-to-treatments-for-all-205914
https://news.harvard.edu/gazette/story/2023/05/newly-identified-genetic-variant-protects-against-alzheimers/
https://abcnews.go.com/Health/alzheimers-treatment-hispanic-community/story?id=103732419https://www.yahoo.com/news/down-syndrome-families-fight-access-100814267.html