Depression perception; MYT1L mice; brain signal variability
Jill Adams
No information about this author
The Transmitter,
Journal Year:
2025,
Volume and Issue:
unknown
Published: Jan. 1, 2025
Molecular changes after MECP2 loss may drive Rett syndrome traits
The Transmitter,
Journal Year:
2025,
Volume and Issue:
unknown
Published: Jan. 1, 2025
Language: Английский
MECP2 mRNA Profile in Brain Tissues from a Rett Syndrome Patient and Three Human Controls: Mutated Allele Preferential Transcription and In Situ RNA Mapping
Biomolecules,
Journal Year:
2025,
Volume and Issue:
15(5), P. 687 - 687
Published: May 8, 2025
Rett
syndrome
(RTT)
is
a
rare
X-linked
dominant
neurodevelopmental
disorder
caused
by
pathogenic
variants
in
the
methyl-CpG-binding
protein
2
(MECP2)
gene,
which
encodes
(MeCP2)
that
acts
as
repressor
of
gene
expression,
crucial
neurons.
Dysfunction
MeCP2
due
to
its
explains
clinical
features
RTT.
Here,
we
performed
histological
and
RNA
analyses
on
post-mortem
brain
sample
from
an
RTT
patient
carrying
p.Arg106Trp
missense
mutation.
This
part
cohort
56
genetically
clinically
characterized
patients,
for
whom
provide
overview
mutation
landscape.
In
specimen,
RT-PCR
analysis
detected
preferential
transcription
mutated
mRNA.
X-inactivation
studies
revealed
skewed
X-chromosome
inactivation
ratio
(95:5),
supporting
transcriptional
findings.
We
also
mapped
MECP2
transcript
control
human
regions
(temporal
cortex
cerebellum)
using
RNAscope
assay,
confirming
high
expression.
study
reports
representation
and,
first
time,
situ
localization
brain,
offering
insights
into
how
specific
mutations
may
differentially
impact
neuronal
functions.
suggest
these
findings
are
developing
RNA-based
therapies
syndrome.
Language: Английский
Exploring the complexity of MECP2 function in Rett syndrome
Nature reviews. Neuroscience,
Journal Year:
2025,
Volume and Issue:
unknown
Published: May 13, 2025
Language: Английский
Epigenetic Regulation and Neurodevelopmental Disorders: From MeCP2 to the TCF20/PHF14 Complex
G Dominguez,
No information about this author
Yongji Wu,
No information about this author
Jian Zhou
No information about this author
et al.
Genes,
Journal Year:
2024,
Volume and Issue:
15(12), P. 1653 - 1653
Published: Dec. 23, 2024
Background:
Neurodevelopmental
disorders
(NDDs)
affect
approximately
15%
of
children
and
adolescents
worldwide.
This
group
is
often
polygenic
with
varying
risk
factors,
many
associated
genes
converging
on
shared
molecular
pathways,
including
chromatin
regulation
transcriptional
control.
Understanding
how
NDD-associated
regulators
protein
complexes
orchestrate
these
regulatory
pathways
crucial
for
elucidating
NDD
pathogenesis
developing
targeted
therapeutic
strategies.
Recently,
the
TCF20/PHF14
complex
was
identified
in
mammalian
brain,
expanding
list
remodelers
implicated
NDDs.
complex—which
includes
MeCP2,
RAI1,
TCF20,
PHF14,
HMG20A—plays
a
vital
role
epigenetic
regulation.
Methods:
We
review
summarize
current
research
clinical
reports
pertaining
to
different
components
MeCP2-interacting
complex.
examine
NDDs
complex,
explore
neuronal
functions
its
components,
discuss
emerging
strategies
targeting
this
mitigate
symptoms,
broader
applicability
other
Results:
Mutations
encoding
have
been
linked
various
NDDs,
underscoring
critical
contribution
brain
development
pathogenesis.
Conclusions:
The
could
serve
as
model
system
provide
insight
into
interplay
between
Language: Английский