Gene implants may hold promise for Alzheimer’s research, says expert at Rancho Santa Fe event
By Diane Y. Welch
Experimentation with genetic implants in Alzheimer’s patients may yield a way to stop or slow the loss of healthy brain cells, a medical expert told the the Rancho Santa Fe Library Guild recently.
The guild held an informative presentation about Alzheimer’s disease on Nov. 13 at the Rancho Santa Fe library. Dr. Michael Rafii, director of the Memory Disorders Clinic and assistant professor at UCSD, discussed advances in research.
Rafii’s lecture was the last of three in the Brain Health and Alzheimer’s Series offered by the library guild in partnership with the Alzheimer’s Association. November is designated as National Alzheimer’s Disease Awareness month.
Rafii was introduced by Lynn Mullowney, AA associate director, Western region. Susan Appleby, guild membership and development manager, opened up the evening.
The lecture had a Q & A format with the audience asking questions about the disease. More than 60,000 San Diegans have Alzheimer’s, making it the third leading cause of death countywide.
Rafii fielded questions and explained up-to-the-minute advances in the field of brain health.
Asked about genetic testing, Rafii said that with a movement toward personalized health care, it is possible to test for an Alzheimer’s gene. “There must be a family history of an early onset form of dementia, typically for those in their 30s through 50s, to test for some of the mutated genes that lead to Alzheimer’s.”
However, these cases make up only about 1 percent of all Alzheimer’s patients. “And it is very challenging to pinpoint the gene and replace it with a good one,” he said.
But a double-blind, placebo-controlled study was just completed at UCSD that implanted a virus into study participants’ brains. The virus carried a gene encouraging healthy brain cells to grow. Results are expected in the summer of 2015, said Rafii.
It is known that 99 percent of Alzheimer’s patients have an under-excretion of the protein beta amyloid — which forms tangles called plaques — out of the brain. These plaques are a defining feature of Alzheimer’s disease.
During sleep, damaged cells and other waste products in the brain are released into the bloodstream where the liver metabolizes and rids the body of them. Disrupted sleep can interfere with this clearance and impair the brain to get rid of beta amyloid.
The plaque build-up damages the brain’s hippocampus, which starts to die off. “Its job is memory function,” said Rafii. “That is why Alzheimer’s patients always present with ‘I’m forgetting.’”
With Alzheimer’s, the shrinkage of the brain is accelerated. Instead of 1 percent a year for healthy adults over age 50, it is 2.5 percent a year — and after five years, there is a 12.5 percent shrinkage. “This allows us to compare Alzheimer’s disease processes versus normal process,” said Rafii.
He described the different forms of dementia, a syndrome where patients have trouble thinking.
Alzheimer’s causes 80 percent of dementia cases. There is also Lewy Body dementia and frontotemporal dementia, which have the common trait of the accumulation of “stuff in the brain that shouldn’t be there,” Rafii said.
In frontotemporal dementia, tangles inside the brain’s neurons are detected, which kill off the neurons. Most recently, these have been seen in former NFL players who have suffered concussions.
Correct diagnosis for the type of dementia is very important, said Rafii, as this affects the caregiver, and how long the patient will suffer with these progressive diseases. An Alzheimer’s patient may live up to 12 years or longer after diagnosis.
To check for the disease, initial basic testing for vitamin B deficiency and poor thyroid function, which can mimic dementia, is conducted. If these levels are normal, a patient will receive further evaluation through brain imaging and an assessment of thinking and problem-solving abilities.
If Alzheimer’s disease is diagnosed, treatments to alleviate symptoms can be started. “But we still can’t slow down the progression of the disease,” said Rafii.
The drug Aricept may be used to boost deficient levels of acetylcholine in the brain, but it will not reverse the disease. Research is being focused on therapies that aim to stop or slow down the disease.
Rafii spoke for more than an hour on his topic, and the audience came away with a clearer understanding of what Alzheimer’s disease is, possible treatments now being studied, and how to stave off the disease.
Getting a good night’s sleep is very important, Rafii stressed.
Appleby closed the evening, saying that the guild is grateful to be able to provide an accessible place for the public to receive reliable and relevant information about important Alzheimer’s and dementia issues directly from the Alzheimer’s Association.
“Our hope is to also raise public awareness of the dire need for increased funding for research in this field,” she said.
Dates for the guild’s 2015 Alzheimer’s Series are 11:30 a.m. Jan. 27, Feb. 24, and March 24. Lunch will be provided. These programs are free to the public.