Gene protects against neurodegenerative diseases

May lead to a number of cures


Scientists from the University of Queensland say they have discovered that a gene called mec-17 has the ability to protect against adult-onset progressive nerve degeneration. This is according to a study published in the journal Cell Reports.


The research team, led by Dr. Brent Neumann of the Queensland Brain Institute (QBI) at the University of Queensland, say their discovery may one day lead to a cure for a number of neurodegenerative diseases, such as motor neuron disease, Parkinson’s disease, Huntington’s disease and Alzheimer’s disease.


To reach their findings, the investigators analyzed a small roundworm called Caenorhabditis elegans. They note that the roundworm is a genetic model commonly used to better understand neurobiology at a basic level.

They discovered that mec-17 – a gene found among many species – protects axons, also known as nerve fibres. These are parts of the nerve cells, or neurons, that are responsible for conducting impulses between the cells.

The gene protects the axon by sustaining its cytoskeletal structure, say the investigators. This is made of proteins that maintain a nerve cell’s shape, support and movement.

Protection of the cytoskeletal structure allows appropriate transportation of important molecules and organelles, such as mitochondria, through the axon.

The researchers say their findings show that the axon plays a crucial part in the health of the nerve cells and should be a focus for future research.

“This study demonstrates that mec-17 normally functions to protect the nervous system from damage,” says Dr. Neumann.

“This knowledge can now be used to understand precisely how the gene achieves this and to discover other molecules that are used by the nervous system for similar protective functions.”

He adds that future research will involve “bypassing” the function of mec-17 and the analysis of other genes that may protect the nervous system from damage.

Dr. Massimo Hilliard, also of the QBI and study author, says their findings could lead to a better understanding of the mechanisms of neuronal injury and neurodegenerative diseases that are “characterized by axonal pathology.”

He adds:  “This is an important step to fully understand how axonal degeneration occurs, and thus facilitates development of therapies to prevent or halt this damaging biological event.  It’s our hope that this could one day lead to more effective treatments for patients suffering from conditions causing neuronal degeneration.”


SOURCE:  Medical News Today. MediLexicon, Intl., 31 Dec. 2013. Web. 22 Feb. 2014. <>

Gene found that ‘protects against neurodegenerative diseases’

Whiteman, Honor



Axonal degeneration arises as a consequence of neuronal injury and is a common hallmark of a number of neurodegenerative diseases. However, the genetic causes and the cellular mechanisms that trigger this process are still largely unknown. Based on forward genetic screening in C. elegans, we have identified the α-tubulin acetyltransferase gene mec-17 as causing spontaneous, adult-onset, and progressive axonal degeneration.

Loss of MEC-17 leads to microtubule instability, a reduction in mitochondrial number, and disrupted axonal transport, with altered distribution of both mitochondria and synaptic components. Furthermore, mec-17-mediated axonal degeneration occurs independently from its acetyltransferase domain; is enhanced by mutation of coel-1, a tubulin-associated molecule; and correlates with the animal’s body length.

This study therefore identifies a critical role for the conserved microtubule-associated protein MEC-17 in preserving axon integrity and preventing axonal degeneration.


SOURCE:  Cell Rep. 2014 Jan 16;6(1):93-103. doi: 10.1016/j.celrep.2013.12.004. Epub 2013 Dec 27.  Copyright © 2014 The Authors. Published by Elsevier Inc. All rights reserved.  PMID: 24373971 [PubMed – in process]

Loss of MEC-17 Leads to Microtubule Instability and Axonal Degeneration.

Neumann B, Hilliard MA.

Queensland Brain Institute, The University of Queensland, Brisbane, QLD 4072, Australia.


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