Potential treatment for Rett Syndrome

Date:
June 10, 2020
Source:
Yale University
Summary:
An experimental cancer drug can extend the life of mice with Rett
Syndrome, a devastating genetic disorder that afflicts about one
of every 10,000 to 15,000 girls within 6 to 18 months after birth.



FULL STORY ==========================================================================
An experimental cancer drug can extend the life of mice with Rett
Syndrome, a devastating genetic disorder that afflicts about one of
every 10,000 to 15,000 girls within 6 to 18 months after birth, Yale researchers report June 10 in the journal Molecular Cell.


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In addition, the drug JQ1 also restores the cellular function of neurons
in human models of the disease. Rett Syndrome causes severe deficits
in language, learning and other brain functions and eventually leads to
death, often during teenage years.

The Yale team -- led by senior author In-Hyun Park, associate professor
of genetics, and a researcher at Yale's Child Study Center and Stem Cell
Center - - wanted to know how a mutation in gene MECP-2 causes the severe disruption to neuronal functions in the cortex of Rett Syndrome patients.

They created a human brain organoid containing this mutation from
embryonic stem cells and found severe abnormalities in multiple brain
cells. A type of brain cell called interneurons, which regulate the
brain's excitatory neurons, was particularly impacted by the mutation.

The lab then screened a variety of compounds and found that one drug,
JQ1, corrected abnormalities found in interneurons of the Rett Syndrome
model. The drug has been investigated in several experimental trials as
a potential cancer treatment. They then tested the drug in mice models
of Rett Syndrome and found that the treated mice lived about twice as
long as those not receiving the drug.

Park said the research paves the way for additional research on potential
new therapies for Rett Syndrome, for which there are currently no
effective treatments.


========================================================================== Story Source: Materials provided by Yale_University. Original written
by Bill Hathaway. Note: Content may be edited for style and length.


========================================================================== Journal Reference:
1. Yangfei Xiang, Yoshiaki Tanaka, Benjamin Patterson, Sung-Min Hwang,
Eriona Hysolli, Bilal Cakir, Kun-Yong Kim, Wanshan Wang, Young-Jin
Kang, Ethan M. Clement, Mei Zhong, Sang-Hun Lee, Yee Sook Cho,
Prabir Patra, Gareth J. Sullivan, Sherman M. Weissman, In-Hyun
Park. Dysregulation of BRD4 Function Underlies the Functional
Abnormalities of MeCP2 Mutant Neurons. Molecular Cell, 2020; DOI:
10.1016/j.molcel.2020.05.016 ==========================================================================

Link to news story: https://www.sciencedaily.com/releases/2020/06/200610135032.htm

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