NOV 10, 2019 10:14 AM PST

Gene Mutation Identified that Protects Agaist Dementia

WRITTEN BY: Annie Lennon

For over two decades, researchers have been studying an extended family of over 1,200 people from Columbia known for having a rare genetic mutation that leads to the early onset of Alzheimer’s Disease. With early signs of the disease typically appearing in their 40’s, one woman from this family, now 73, has baffled scientists by so far having shown no signs of the condition. 

Although researchers have found that she suffers from mild cognitive impairment, diagnostic tests have revealed that she does not have Alzheimer’s- or any other signs of dementia. This comes despite tests showing that she has unusually high levels of amyloid beta in her a brain- a build-up of sticky protein typically thought to cause Alzheimer’s- and her high genetic risk factor for the disease (Gander: 2019). 

Conducting a genetic analysis, researchers found that she had two copies of a rare variant of the APOE3 gene, a gene that encodes for apolipoprotein E, a protein involved in the metabolism of fats in the body. Although this gene typically has no effect on a person’s risk for Alzheimer’s, in her case, researchers proposed that her rare mutation may have prevented the tau protein, also linked to Alzheimer’s, from building up in her brain (Gallagher: 2019).

With previous drugs targeting amyloid plaques to treat Alzheimer’s having limited efficacy, these findings suggest two things: firstly, that the buildup of tau protein may have more of a role in the onset of Alzheimer’s than previously thought, and that drugs targeting APOE genes may have more utility than previously believed. 

According to Eric Reiman, a neuroscientist at the Banner Alzheimer’s Institute in Phoenix, “When it comes to finding a treatment that could have a profound impact on the disease, APOE may be among the lowest hanging fruit (Servick: 2019).”

Fiona Carragher, chief policy and research officer at the Alzheimer’s Society charity added, “This breakthrough opens up a new and promising avenue of Alzheimer's research, although further studies with larger numbers are needed...We need to understand more about how this protective gene mutation is working to make the brain more resilient to amyloid plaques, but the hope is that this exciting scientific advance could lead to new treatments and take us a step closer towards a cure for dementia (ibid.)."


 

Sources 

 

Gander: Kashmira: Newsweek

Gallagher, Paul: inews

Servick, Kelly: Science Mag

 

About the Author
  • Science writer with keen interests in technology and behavioral biology. Her current focus is on the interplay between these fields to create meaningful interactions, applications and environments.
You May Also Like
OCT 03, 2020
Clinical & Molecular DX
Test Diagnoses Dementia While You Sleep by Estimating Your Brain Age
OCT 03, 2020
Test Diagnoses Dementia While You Sleep by Estimating Your Brain Age
Researchers at Harvard have discovered a novel diagnostic marker of dementia for identifying undiagnosed patients or tho ...
OCT 20, 2020
Immunology
The Immune Pause Button Slowing MS Progression
OCT 20, 2020
The Immune Pause Button Slowing MS Progression
  Scientists have a new theory about the genetics behind the progressive, debilitating effects of multiple sclerosi ...
OCT 21, 2020
Space & Astronomy
Why Some Astronauts Get Blurry Vision After Spaceflight
OCT 21, 2020
Why Some Astronauts Get Blurry Vision After Spaceflight
Researchers from the University of Antwerp in Belgium have found that the fluid surrounding the brain, known as craniosp ...
OCT 25, 2020
Neuroscience
Chimps Shift to Reciprocated Friendships with Age
OCT 25, 2020
Chimps Shift to Reciprocated Friendships with Age
Image: Pixabay   Researchers studying aging male chimpanzee relationships have gathered evidence that chimps narrow ...
NOV 08, 2020
Neuroscience
New Way to Restore Fatty Myelin Sheaths on Nerve Cells
NOV 08, 2020
New Way to Restore Fatty Myelin Sheaths on Nerve Cells
Researchers from the F.M. Kirby Neurobiology Center in the US have discovered a new approach to restore myelin sheaths, ...
NOV 20, 2020
Cannabis Sciences
Can Cannabis Treat Opiate Addiction?
NOV 20, 2020
Can Cannabis Treat Opiate Addiction?
As cannabis products become more popular, many healthcare professionals are starting to consider the plant as a part of ...
Loading Comments...