Alzheimer’s: promising discovery at HMR

The journal Nature Communications published a study by a team from the Hôpital Maisonneuve-Rosemont (HMR) Research Centre that advances our understanding of Alzheimer’s disease. Explanation.

Understanding Alzheimer’s disease: research advances

The importance of the BMI1 gene

In a first study, researchers at the Hôpital Maisonneuve-Rosemont Hospital Research Center (HMRRC) demonstrated that the expression of the BMI1 gene, known to prevent cellular aging, was strongly reduced in the brains of Alzheimer’s patients.

BMI1, an anti-Alzheimer’s shield

Later, Dr. Gilbert Bernier’s team established that the inactivation of this same gene, BMI1, in cultured human neurons or in mice, was sufficient to recapitulate all the pathological markers associated with Alzheimer’s disease.

BMI1 gene protects our DNA

In a third paper, also published in the journal Nature Communications, the HRMRC team showed that the BMI1 gene is required to prevent the DNA in our cells from acquiring a particular conformation, called the G4 structure, a structure found in people with Alzheimer’s disease.

In short, BMI1 protects us from Alzheimer’s disease by, among other things, preventing the excessive formation of these G4 structures, which disrupt the normal function of our neurons.

˃ Read G-quadruplexes originating from evolutionary conserved L1 elements interfere with neuronal gene expression in Alzheimer’s disease, Nature Communications, March 2021

Alzheimer’s disease: an alarming reality

Canada will soon have 1 million people suffering from Alzheimer’s disease and related dementias. Despite this staggering number, there are still no treatments for this disease and the origin of the sporadic form of Alzheimer’s disease (more than 95% of cases) remains unknown.

Alzheimer’s disease: one disease, two forms

Alzheimer’s disease has many causes, which result from the interaction between a genetic “terrain” and environmental factors. There are two forms of Alzheimer’s disease:

1. The sporadic or non-hereditary form
2. The family or hereditary form

The sporadic form:

• Is also called the non-hereditary form.
• Is the most common form of the disease (more than 95% of cases).
• Is not hereditary.
• Is caused by a complex combination of genetic, environmental and lifestyle factors.

Family or hereditary forms :

• Are very rare.
• are characterized by an early onset (before age 60).
• are explained by the presence of a mutation in a gene on chromosomes 1, 14 or 21. These three genes responsible for family forms have been known since the 1990s.

Foundation’s donors playing key role

This research was almost entirely funded by the very generous contribution of a donor from the Hôpital Maisonneuve-Rosemont Foundation who wishes to remain anonymous.

Thank you to all of you who help advance research. Thank you for being a source of progress and hope!

About Dr. Gilbert Bernier

Gilbert Bernier, PhD in molecular biology, is director of the research unit on the molecular mechanisms of neuronal aging. His research focuses on brain aging and related diseases, vision, and diseases such as macular degeneration, Alzheimer’s, and brain cancer. Dr. Bernier is also an Associate Professor in the Department of Neuroscience at the Université de Montréal.

Going further

˃ G-quadruplexes originating from evolutionary conserved L1 elements interfere with neuronal gene expression in Alzheimer’s disease, Nature Communications, March 2021

˃ Origin of the common form of Alzheimer’s disease: a hopeful understanding of the role of the BMI1 gene, Université de Montréal, May 2018