Page 6 - 2020 Summer CMTA Report

NEW CMT TYPE theory using skin cell fibroblasts blood sample could flag people at
(continued from page 4)
from CMT patients. The team risk and could also help physicians
them ran into each other over found that just as in the fruit fly monitor their response to treat-
lunch. When he told her about his model, when relevant genes were ment over time.
team’s discovery, she said he could inactivated, they saw accumulation The core study team included
introduce the gene mutation into of the sorbitol and a reversal with INC members Dr. Michael Shy,
her fruit fly model. the addition of the medication. MD, from the University of Iowa,
Dr. Zhai and colleagues were According to Dr. Züchner, and David Hermann, MBBCh,
able to genetically manipulate flies SORD neuropathy will represent from the University of Rochester,
to raise sorbitol levels, causing pre- one of the first examples of a treat- both of whom are also on the
cisely the same kind of damage able hereditary neuropathy. The CMTA STAR Advisory Board,
observed in people. The fruit flies experience with SORD neuropa- and Dr. Rosemary R. Shy from
with neuronal damage behaved thy reinforces the power of the University of Iowa. Dr. Mario
differently, but when treated, international collaborations, which Saporta, MD, assistant professor
showed an “amazing reversal” of can accelerate the journey from of neurology at the Miller School,
their altered movements, Dr. Zhai gene identification to effective also participated in the study. He
said, adding, “This is truly treatment, he said. built and runs the premier CMT
remarkable. In my career I work “This story is really unique. clinic in Florida and is a member
on neurodegenerative diseases, and Because we can measure the sor- of the CMTA STAR Advisory
I’ve never seen such complete sup- bitol, we will be able to determine Board. “Without the support of
pression of the phenotype. We are effectiveness of treatments and the Inherited Neuropathy Consor-
very excited about this.” even can determine pathogenicity tium and the CMTA, this work
After modeling CMT in fruit of DNA variants,” Dr. Züchner would not have been possible,”
flies, the next step was to test the said. Measuring sorbitol levels in a Dr. Züchner said. h

6 THE CMTA REPORT SUMMER 2020