New genetic cause of neurodegeneration identifiedMay 2nd, 2011 - 5:53 pm ICT by ANI
London, May 02 (ANI): Two mutations responsible for a devastating neurological condition they first identified 15 years ago have been discovered by Mayo Clinic researchers.
The researchers said their study has revealed a new neural pathway that may help understand a variety of similar conditions.
“We were able to do this now because of Next Generation genomic sequencing technology,” said Christopher Klein, Mayo Clinic neurologist and lead author of the study.
“We also had the invaluable help of our international collaborators who helped identify additional extended families with this condition, making the extensive genetic data available to us,” added Klein.
Called hereditary sensory and autonomic neuropathy type 1 (HSAN1) with dementia and hearing loss, its symptoms begin to appear in the young adult years — 20 to 35 — after which an individual’s cognitive ability, hearing and ability to sense limbs deteriorate slowly. There is no treatment or cure. It was first identified and described by Peter Dyck, a senior Mayo neurologist and co-author of this current paper.
In addition to the original family studied by Dyck, Klein’s team focused on DNA samples and data from three other family groups spanning the United States, Japan, the United Kingdom (U.K.) and Australia (the U.K. and Australian individuals are one family and the other U.S. family makes up the four). In addition to NextGen sequencing and subsequent bioinformatics studies, team members conducted intracellular and methylation studies.
Ultimately, they discovered the mutations on the DNMT1 area cause misfolding of the enzyme, decreased enzyme activity and loss of chromatin binding.
They also showed that even moderate alterations in methylation can disrupt normal neural functions, “suggesting that DNMT1 is part of a precise mechanism of dynamic regulation of the nervous system.”
The study has been published in the Nature Genetics. (ANI)
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