The research, which was carried out in mice, focused on the Golgi apparatus -- a compartment inside all cells in the body that controls the processing and transport of proteins. It is fundamental for the growth of the cell membrane and also for the release of many types of proteins such as hormones, neurotransmitters and the proteins that make up our skeletons.
Researchers examined the role of the Golgi apparatus in neurons, or brain cells, and found that mice in which the apparatus was disabled suffered from developmental delay, severe ataxia, and postnatal death.
Global KO of mouse GM130, a Golgi protein required for Golgi organization, results in developmental delay, severe ataxia, and postnatal death. Authors further show that selective deletion of GM130 in neurons causes fragmentation and defective positioning of the Golgi apparatus, impaired secretory trafficking, and dendritic atrophy in Purkinje cells.
These cellular defects manifest as reduced cerebellar size and Purkinje cell number, leading to ataxia. Purkinje cell loss and ataxia first appear during postnatal development but progressively worsen with age.
Ataxia is a term for a group of disorders that affect co-ordination, balance and speech. Any part of the body can be affected, but people with ataxia often have difficulties with balance and walking, speaking, swallowing, tasks such as writing and eating, and vision. It can be inherited, brought on through incidents such as a stroke, or through old age.
Although the function of the Golgi apparatus, named after its Italian discoverer, is well understood, it has not been previously been shown to have a role in neurodegeneration. With these results the scientists think they may have found a new avenue to explore in the search for the causes of some neurodegenerative diseases.
The lead researcher, said: "Our results, combined with previous work, suggest that during the cellular changes that occur, loss of the Golgi function could be an important intermediary step that contributes to cell death."
How much the Golgi apparatus contributes to the major neurodegenerative diseases such as Alzheimer's or Parkinson's is something that is currently unclear, though other studies have made this link.
http://www.manchester.ac.uk/discover/news/protein-tap-clue-neurodegenerative-disease/
http://www.pnas.org/content/114/2/346
Golgi and neurodegenerative diseases
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