Are short tandem repeat sequences involved in MS?

Dr Bennet McComish

Menzies Institute for Medical Research, TAS

| Causes and Prevention | Genetics | Incubator | 2018 | Investigator Led Research |
SUPPORT PROJECTS WITH THIS RESEARCH FOCUS

Summary

Multiple sclerosis is not an inherited disease, however, we do know that genes play a large role in a person’s susceptibility to develop MS. For this reason MS can cluster in some families. Short tandem repeats, or microsatellites, are short sequences of DNA that are repeated many times in a row on a strand of DNA within our genetic code. They are a normal part of our DNA and are found in many places in the human genome. However, in some cases abnormally long stretches of STRs have been associated with a number of disorders, including Huntington's disease, and amyotrophic lateral sclerosis (ALS). The severity of these diseases can often be associated with the length of the STR region.

In this Incubator Grant, Dr McComish and colleagues, will investigate families where MS occurs in many family members. He will look at the STRs in the genomes of family members to determine if there is any variation in the lengths of STRs between family members that have MS, and those without the disease. In those that have MS, he will determine if the length of the STRs are associated with the age of onset or the severity of their MS.

This novel method for investigating familial MS may provide clues about why the severity and progression of the disease is so diverse in all people with MS, and may open the way to a new area to be studied in people with MS.

Progress to Date

Dr McComish has successfully come up with a plan to find out if there are differences in the lengths of STRs between people with MS and without MS. In preliminary findings, he has found 16 regions in the genome that have longer STRs in people with MS compared to those without MS. Half of these regions are near genes that are associated with neurological disorders or the development of the brain.

Dr McComish is currently in the process of confirming these findings before looking at these differences in participants of the AusImmune Study and comparing them to people without MS.

Dr McComish is currently preparing a manuscript detailing these findings for submission to a scientific journal.

Updated: 31 March 2019

Updated: 02 January, 2018

Investigator

Co-investigator

  • Dr Jac Charlesworth, Menzies Institute for Medical Research, TAS
  • Associate Professor Kathryn Burdon, Menzies Institute for Medical Research, TAS

Grant Awarded

  • Incubator Grant

Total Funding

  • $25,000

Duration

  • 1 year over 2018

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