Wednesday, 10 August 2016

Exome Sequencing: The Future For Neuropathy Treatment?

Today's post from (see link below) is a very short post (can be read during your first coffee of the day - ideal right!) but nonetheless an important one for the future of neuropathy treatment. We're all aware that gene therapy is the next big thing in the medical world but what we may not know is that successful gene therapy is based on what's known as 'exome sequencing'. Basically, exome sequencing is the encoding of the protein parts of all genes. Okay, so we're none the wiser from knowing that but if we understand that all the gene threads we see in diagrams need to be mapped and identified, then we can see that any blips in the chain may be responsible for the conditions we suffer from. Re-sequencing our genes via gene therapy, will set that right and remove the problem...theoretically. That's all we need to know for the moment as we excitedly wait for the chance to be treated with gene therapy...we'll be waiting a long time, if only due to the enormous cost but it does give hope for the future and for future neuropathy patients.

A potential target for peripheral neuropathy treatment discovered
August 3, 2016 by Bill Hathaway

Whole exome sequencing has revealed a novel mechanism and potential target for treating peripheral neuropathy, a condition that afflicts millions of people in the United States alone.

Yale neurosurgeon Kristopher Kahle along with and colleagues at Vanderbilt University and the National Institutes of Health have discovered that a mutation resulting in a change of only one critical amino acid in a gene encoding a potassium/chloride transporter was sufficient to cause a progressive, early onset, and severe form of a predominantly motor neuropathy in humans. The mutation released an inhibitory "brake" on the transport of potassium and chloride into cells, which impaired cell volume regulation.

"Our study has shown the importance of dynamic cell volume regulation for the structure and function of the human nervous system," said Kahle, lead author of the research. "Modulating this pathway could be a potential novel approach to treating peripheral neuropathies, including those associated with diabetes."

The research was published Aug. 2 in the journal Science Signaling.

Explore further:
Mutation may cause inherited neuropathy

More information: K. T. Kahle et al. Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter, Science Signaling (2016). DOI: 10.1126/scisignal.aae0546

Journal reference:
Science Signaling

Provided by: Yale University

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