Researchers identify genetic factors that contribute to Alzheimer's disease

January 3, 2018, Boston University School of Medicine

Researchers have identified several new genes responsible for Alzheimer's disease (AD) including those leading to functional and structural changes in the brain and elevated levels of AD proteins in cerebrospinal fluid (CSF).

Unlike traditional AD research, this study focused on individual groups across specific on the cognitive spectrum [normal cognitive functioning or controls, (MCI) and AD cases]. As opposed to the typical study design which combines all such persons into a single group or focuses only on cognitively healthy persons, this research identified several novel genetic associations within multiple subgroups.

According to the researchers these associations are not evident when comparing AD cases to controls or within AD cases, suggesting that these signals underlie processes before onset of AD. As such, these may be more attractive targets for drug development because it is increasingly recognized that effective drugs will be those given to persons before or shortly after they develop cognitive impairment.

The researchers tested the association between AD-related brain MRI measures, logical memory test scores and CSF levels of two AD proteins (amyloid-beta and tau) with several million genetic markers (called SNPs) across the genome in a sample of 1,189 participants of the Alzheimer Disease Neuroimaging Initiative (ADNI) study. They then examined the biological significance of the top-ranked associated SNPs and genes using several datasets containing information about gene expression in parts of the brain most affected by AD.

Two of the study-wide significant genes identified in the normal cognitive functioning group, SRRM4 and MTUS1, are involved in neuronal signaling, development and loss. Another gene identified in this group, GRIN2B, encodes a subunit of a receptor that has roles in resilience of neurons and memory.

"Our findings provide important insight about biological mechanisms leading to Alzheimer disease, especially at stages of the disease before symptoms occur," says Lindsay A. Farrer, PhD, Distinguished Professor of Genetics and Chief of the Biomedical Genetics section at Boston University School of Medicine, and principal investigator of the study. "The novel genes we identified may be potential targets for developing new treatments that might delay or even prevent onset of symptoms of this insidious disease."

Explore further: Memory scores limited as Alzheimer's screening tool

Related Stories

Memory scores limited as Alzheimer's screening tool

December 4, 2017
(HealthDay)—Low memory scores are an early marker of amyloid positivity, but have limited value as a screening measure for early Alzheimer's disease among persons without dementia, according to a study published online ...

Study finds genes associated with hippocampal atrophy

June 28, 2012
In a genome-wide association (GWA) study, researchers from Boston University Schools of Medicine (BUSM) and Public Health (BUSPH) have identified several genes which influence degeneration of the hippocampus, the part of ...

A protein involved in Alzheimer's disease may also be implicated in cognitive abilities in children

August 2, 2017
Rare mutations in the amyloid precursor protein (APP) have previously been shown to be strongly associated with Alzheimer's disease (AD). Common genetic variants in this protein may also be linked to intelligence (IQ) in ...

Two Alzheimer's risk genes linked to brain atrophy, promise future blood markers

December 23, 2015
Two genetic variants previously linked to Alzheimer's disease have been more specifically tied to brain atrophy that is characteristic of the disease.

Investigating plasma levels as a biomarker for Alzheimer's disease

April 18, 2016
A Centre for Healthy Brain Ageing (CHeBA) paper published in Current Alzheimer Research presents the first detailed study of the relationship between plasma levels of two amyloid beta peptides (Aβ1-40 and Aβ1-42), brain ...

A step forward searching for an early biomarker of Alzheimer's disease

July 19, 2016
Researchers from Centre for Biomedical Technology (CTB) at Universidad Politécnica de Madrid (UPM) have shown that the abnormal pattern of functional connectivity in patients with mild cognitive impairment can be considered ...

Recommended for you

Rocky start for Alzheimer's drug research in 2018

January 19, 2018
The year 2018, barely underway, has already dealt a series of disheartening blows to the quest for an Alzheimer's cure.

Alzheimer's disease: Neuronal loss very limited

January 17, 2018
Frequently encountered in the elderly, Alzheimer's is considered a neurodegenerative disease, which means that it is accompanied by a significant, progressive loss of neurons and their nerve endings, or synapses. A joint ...

Anxiety: An early indicator of Alzheimer's disease?

January 12, 2018
A new study suggests an association between elevated amyloid beta levels and the worsening of anxiety symptoms. The findings support the hypothesis that neuropsychiatric symptoms could represent the early manifestation of ...

One of the most promising drugs for Alzheimer's disease fails in clinical trials

January 11, 2018
To the roughly 400 clinical trials that have tested some experimental treatment for Alzheimer's disease and come up short, we can now add three more.

Different disease types associated with distinct amyloid-beta prion strains found in Alzheimer's patients

January 9, 2018
An international team of researchers has found different disease type associations with distinct amyloid-beta prion strains in the brains of dead Alzheimer's patients. In their paper published in Proceedings of the National ...

Advances in brain imaging settle debate over spread of key protein in Alzheimer's

January 5, 2018
Recent advances in brain imaging have enabled scientists to show for the first time that a key protein which causes nerve cell death spreads throughout the brain in Alzheimer's disease - and hence that blocking its spread ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.