Alzheimer’s Researchers Study Genes in Puerto Rican and Latino Families

Miami — with Latinos 1.5 times more likely More than white people develop Alzheimer’s disease, researchers are revealing more information about what role genetics plays in people at higher risk of developing the disease.

Researchers at the University of Miami are working with doctors in Puerto Rico, Peru and Africa to search for risk factors and new genetic factors that contribute to the prevention of Alzheimer’s disease, with the goal of finding new drug targets.

They found that people in Puerto Rico were more prone to Alzheimer’s disease, and part of the reason could be a genetic mutation they discovered.

is about 6 million people The United States suffers from Alzheimer’s disease, the prevalence of which is projected to increase to approximately 14 million by 2050. memory and thinking. There is no cure, and available treatments are of limited efficacy.

One of the groups the researchers are investigating is the population of Puerto Rico, which makes up the second largest Hispanic group in the continental United States. 10.7% of the population Alzheimer’s disease over 65 Puerto Rico is 12.5%In the United States, it is the fifth leading cause of death for people over the age of 65, but in Puerto Rico, 4th place in the same generation.

When Alzheimer’s disease genetic research pioneer Margaret Pelicak Vance was at Duke University, she began trying to involve a more diverse group of people in her research.

At the time, most gene-based research on Alzheimer’s disease was conducted in non-Hispanic Caucasian populations of European ancestry, largely ignoring communities of Hispanic and African ancestry.

“It wasn’t happening,” said Pericak-Vance, director of the John P. Hussmann Institute for Human Genomics at the University of Miami Miller College of Medicine. .”

Today, she spearheads the Hussman Institute, building a large genetic database to study aspects of Alzheimer’s disease and genetic variation between Hispanic and African communities.

Their work will help fill a major gap in minority research and may play an important role in drug development for Alzheimer’s disease.

“Gene targets that are of interest to pharmaceutical companies are twice as likely to be therapeutically successful as non-gene targets,” Pericak-Vance said.

The Hussman Institute is one of the top programs funded by the National Institute on Aging, part of the National Institutes of Health.

A variant of the APOE gene, APOE4, is considered the most important genetic risk factor for late-onset Alzheimer’s disease, and most studies initially focused only on people of European descent.

“Once we started looking at different groups, we saw different risks,” Pericak-Vance said of findings published in 2018 based on genomics and APOE studies from different groups. “For example, the risk was lower among individuals of African or African ancestry.”

“This paper we published helped people understand that ancestry is important and that research should include diverse populations,” she said.

Dr. Katrina Celis, an associate scientist at the Hussman Institute who studies Alzheimer’s disease in Hispanic populations, has focused on genetic research for the past 13 years.

“Coming from a developing country, I faced and understood the need to include and represent diverse populations in genetic research,” said Celis from Venezuela. “I have primarily focused on increasing participation in genetic research from diverse populations, particularly the Hispanic-Latino community.”

Celis is We are collaborating with Dr. Briceida Feliciano Astacio, neurologist and principal investigator at Central Delcaribe University in Bayamon, Puerto Rico.

Celis, Feliciano-Astacio, and the Hussman Institute team are studying large families in Puerto Rico and what they call “multiple families,” meaning that there are two or more people with Alzheimer’s disease.

Feliciano-Astacio said the island’s aging population is struggling as many young Puerto Ricans have left due to the economic situation.

“There are a lot of older people who are lonely,” she said, adding that it affects all socioeconomic backgrounds.

Celis is also working on a second project to study chromosome 14. Her chromosome 14 contains a well-known gene found in early-onset Alzheimer’s disease. She seeks to identify the molecular mechanisms driving this particular case, as well as the wide range of ages of onset seen in individuals with this particular genetic mutation.

Variant found only among Hispanic Caribbeans

Puerto Ricans are a mixed population whose genetic ancestry consists primarily of European, African, Native American or Amerindian ancestry.

“We are the first group to identify that this variant actually exists in African ancestry,” Celis said of the variant on chromosome 14.

“We have identified that the specific regions harboring this variant associated with Alzheimer’s disease risk have an African ancestry background,” Celis said. “However, that particular variant has only been found in Caribbean Hispanic individuals of predominantly Puerto Rican descent. This is known in the genetic world as the founder mutation. It just means that something happened on the island that created this kind of variant after the eradication of these individuals’ genetic information.”

Celis and Pericak-Vance agree that including a more diverse population is the only way forward.

“Inclusion and awareness are essential to advancing precision medicine in diverse populations,” said Pericak-Vance.