A new study has identified a gene mutation that could be partly responsible for the development of Alzheimer's disease.
Researchers from Norway at the University of Bergen (UiB) and Haukeland University Hospital found that a specific protein - PITRM1 - in the mitochondria of a cell could be linked to the condition.
These findings could be significant for better understanding Alzheimer's disease, as well as other neurodegenerative conditions. This may lead to more effective treatments for people at all stages of the disease, which could help their prognosis and quality of life.
Mitochondria are often called the 'powerhouse' of a cell as they are responsible for many key processes such as respiration and energy production. The researchers now think that Alzheimer's disease, which is caused by the build up of proteins in the brain, could be at least partly caused by the levels of PITRM1 in mitochondria.
Janniche Torsvik, at the Mitochondrial Medicine & Neurogenetics (MMN) research group at UiB's Department of Clinical Medicine (K1), said a low level of PITRM1 in cells causes an increase in the amount of protein sediment in the brain.
The team studied one family with a gene defect that leads to reduced amounts of PITRM1, meaning they all suffered from 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," Dr Torsvik explained.
Findings from the study answer a lot of questions about the link between mitochondria and accumulation of amyloid in the brain.
"We have found that mitochondria play a crucial role in the process of protein deposition," said Dr Torsvik.
Professor Laurence A Bindoff, who is leading the MMN group in Bergen, wants to conduct further research into the role of PITRM1 in other neurodegenerative diseases. He said the aim was to help identify new medications to delay diseases like Alzheimer's or even prevent them from occurring in the first place.
It is hoped that these findings, along with other research, could lead to more effective treatment for people with Alzheimer's disease. Studies could also help people to better identify the early signs of the condition, where treatment is known to be most effective.
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