Gene defect may point to solution for Alzheimer's

April 13, 2016
Laurence Bindoff (picture) and Janniche Torsvik have studied the connection between the protein (PITRM1) and neurodegeneration in order to create new medicines to fight Alzheimer's disease. Credit: Solfrid T. Langeland

Alzheimer's disease is caused by protein (amyloid) deposition in the brain. New research at the University of Bergen (UiB) and Haukeland University Hospital shows that the protein PITRM1, which is found in mitochondria, otherwise known as the powerhouses of the cell, may be involved in the development of the disease.

"When the level of PITRM1 in the decreases, this leads to an increase in the deposition of protein sediment in the brain," says researcher Janniche Torsvik, at the Mitochondrial Medicine & Neurogenetics (MMN) research group at UiB's Department of Clinical Medicine (K1).

From gene defect to brain sediment

The group has investigated a family with a gene defect that leads to reduced amounts of PITRM1. The family suffered major physical and psychological problems.

"The family had reduced amounts of this PITRM1 protein and became increasingly ill. Scans of their brains confirmed the damage and when we tested mice with the same loss of PITRM1, these too had neurological problems and protein deposition in the brain," says Torsvik.

Torsvik points out that the new study is important to understand neurodegenerative diseases such as Alzheimer's .

"The results conclude a long discussion about the relationship between mitochondria and accumulation of amyloid in the . We have found that mitochondria play a crucial role in the process of protein deposition," says Torsvik.

Searching for new medication

Professor Laurence A Bindoff, who is leading the MMN group in Bergen, wants to do more research on PITRM1 and its role in other neurodegenerative diseases.

"Our aim is that this research will help us find medications to prevent or delay diseases like Alzheimer's," says Bindoff.

He wants to find out more about diseases such as Alzheimer's and has applied to become a Norwegian Centre of Excellence (SFF), a programme administered by the Research Council of Norway.

The new centre is to be called the Centre for research into age related neurodegenerative diseases (NeuroAge) and is now in the final round to get the prestigious SFF status.

The UiB researchers worked together with the neurological department at Førde Central Hospital in Norway, the centre Medical Genetics and Molecular Medicine (MGM) at Haukeland University Hospital and the MRC Mitochondrial Biology Unit at the University of Cambridge, a lab led by Massimo Zeviani.

Mitochondria

  • Mitochondria are known as the powerhouses of the cell.
  • Mitochondria exist in almost every cell of the human body.
  • If the mitochondria do not function the way they should, it can lead to serious illness.
  • In we find the PITRM1. This study show that it is a connection between reduced mitochondrial function and neurodegenerative diseases like Alzheimer`s.

Explore further: New insights into the cause of neurological symptoms in mitochondrial diseases

More information: D. Brunetti et al. Defective PITRM1 mitochondrial peptidase is associated with A amyloidotic neurodegeneration, EMBO Molecular Medicine (2015). DOI: 10.15252/emmm.201505894

Related Stories

New insights into the cause of neurological symptoms in mitochondrial diseases

March 31, 2016
Mitochondrial diseases - which affect 1 in 5,000 people - encompass a spectrum of disorders with an array of symptoms. Many patients with a mitochondrial disease experience neurological symptoms, including intellectual disability, ...

How Alzheimer's peptides shut down cellular powerhouses

August 29, 2014
The failing in the work of nerve cells: An international team of researchers led by Prof. Dr. Chris Meisinger from the Institute of Biochemistry and Molecular Biology of the University of Freiburg has discovered how Alzheimer's ...

Stress pushes cells to die when gatekeeper of calcium use in mitochondria is dysfunctional

March 9, 2016
Malfunctioning mitochondria—the power plants in cells—are behind the damage caused by strokes, heart attacks, and neurodegenerative diseases, but little has been known about how to stop these reactors from melting down, ...

Newly discovered proteins may protect against aging's illnesses

April 11, 2016
A group of six newly discovered proteins may help to divulge secrets of how we age, potentially unlocking new insights into diabetes, Alzheimer's, cancer, and other aging-related diseases.

Sugar rush shrinks brain cell powerhouse

February 25, 2016
The spike in blood sugar levels that can come after a meal is controlled by the brain's neuronal mitochondria, which are considered the "powerhouse of cells," Yale School of Medicine researchers found in a new study.

Protecting the heart: Cardiac heme oxygenase regulates injury response

February 25, 2016
The constant beating of the heart requires an enormous output of energy. To meet this demand, cardiomyocytes are loaded with mitochondria, organelles that generate the majority of energy for cells. These mitochondria are ...

Recommended for you

Canola oil linked to worsened memory and learning ability in Alzheimer's

December 7, 2017
Canola oil is one of the most widely consumed vegetable oils in the world, yet surprisingly little is known about its effects on health. Now, a new study published online December 7 in the journal Scientific Reports by researchers ...

Genetics study suggests that education reduces risk of Alzheimer's disease

December 7, 2017
The theory that education protects against Alzheimer's disease has been given further weight by new research from the University of Cambridge, funded by the European Union. The study is published today in the BMJ.

Healthy mitochondria could stop Alzheimer's

December 6, 2017
Alzheimer's disease is the most common form of dementia and neurodegeneration worldwide. A major hallmark of the disease is the accumulation of toxic plaques in the brain, formed by the abnormal aggregation of a protein called ...

Alzheimer's damage in mice reduced with compound that targets APOE gene

December 6, 2017
People who carry the APOE4 genetic variant face a substantial risk for developing Alzheimer's disease.

Lithium in water associated with slower rate of Alzheimer's disease deaths

December 5, 2017
Rates of diabetes and obesity, which are important risk factors for Alzheimer's disease, also decrease if there is a particular amount of lithium in the water, says the study, published recently in the Journal of Alzheimer's ...

Hyperbaric oxygen therapy may alleviate symptoms of Alzheimer's Disease

December 5, 2017
A new Tel Aviv University study reveals that hyperbaric oxygen treatments may ameliorate symptoms experienced by patients with Alzheimer's disease.

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.