Genetic variants in QRICH2 gene among Jordanians with sperm motility disorders
Libyan Journal of Medicine,
Journal Year:
2025,
Volume and Issue:
20(1)
Published: March 19, 2025
Sperm
motility,
a
key
determinant
of
male
fertility,
is
often
impaired
by
genetic
variations
affecting
flagellar
formation.
The
glutamine-rich
protein
2
(QRICH2)
gene
encodes
essential
for
sperm
flagella
biogenesis
and
structural
integrity.
This
study
investigates
within
exon
3
the
QRICH2
gene,
identifying
novel
heterozygous
variants
associated
with
tail-specific
abnormalities
motility
impairments.
Among
34
individuals
diagnosed
asthenozoospermia
(ASZ)
26
normal
parameters
(NZ)
from
Jordan,
eight
unique
(c.123
G>T,
c.133
G>C,
c.138A>G,
c.170A>C,
c.189C>G,
c.190T>C,
c.195A>T,
c.204A>T)
were
exclusive
to
ASZ
group,
while
four
(c.136
G>A,
c.145A>C,
c.179T>G,
c.180T>G)
found
only
in
NZ.
These
absent
major
databases,
suggesting
their
potential
novelty,
two
(c.206C>T
c.189C>T)
linked
known
SNP
cluster
IDs
rs73996306
rs1567790525,
respectively.
Four
non-synonymous
SNPs
predicted
be
functionally
structurally
damaging,
underscoring
significance.
Additionally,
five
overlapped
previously
reported
mutation
sites,
indicating
hotspots.
Statistical
analysis
revealed
significant
association
between
mutations
tail
defects
(p
<
0.021).
findings
highlight
critical
role
mild-to-moderate
ASZ,
even
NZ
individuals.
Despite
some
carriers
meeting
WHO
criteria
NZ,
notable
morphological
suggest
need
refined
diagnostic
benchmarks.
Screening
accurate
molecular
diagnosis
should
integrated
into
counseling,
particularly
regions
like
Jordan.
Further
research
cumulative
effects
environmental
interactions
needed
expand
our
understanding
idiopathic
infertility
enhance
therapeutic
strategies
infertility.
Language: Английский
Transforming Pharmacogenomics and CRISPR Gene Editing with the Power of Artificial Intelligence for Precision Medicine
Pharmaceutics,
Journal Year:
2025,
Volume and Issue:
17(5), P. 555 - 555
Published: April 24, 2025
Background:
Advancements
in
pharmacogenomics,
artificial
intelligence
(AI),
and
CRISPR
gene-editing
technology
are
revolutionizing
precision
medicine
by
enabling
highly
individualized
therapeutic
strategies.
Artificial
intelligence-driven
computational
techniques
improve
biomarker
discovery
drug
optimization
while
pharmacogenomics
helps
to
identify
genetic
polymorphisms
affecting
metabolism,
efficacy,
toxicity.
Genetically
editing
based
on
presents
a
precise
method
for
changing
gene
expression
repairing
damaging
mutations.
This
review
explores
the
convergence
of
these
three
fields
enhance
improved
medicine.
Method:
A
methodical
study
current
literature
was
performed
effects
response
variability,
intelligence,
predictive
modeling
applications.
Results:
Driven
allows
clinicians
classify
patients
select
appropriate
medications
depending
their
DNA
profiles.
reduces
side
effect
risk
increases
efficacy.
Precision
modifications
made
feasible
therapy
outcomes
oncology,
metabolic
illnesses,
neurological
diseases,
other
fields.
The
integration
streamlines
genome-editing
applications,
lowers
off-target
effects,
specificity.
Notwithstanding
advances,
issues
including
biases,
moral
dilemmas,
legal
constraints
still
arise.
Conclusions:
synergy
alters
letting
customized
interventions.
Clinically
translating,
however,
hinges
resolving
data
privacy
concerns,
assuring
equitable
access,
strengthening
systems.
Future
research
should
focus
refining
technologies,
enhancing
AI-driven
developing
guidelines
applying
tools
going
forward.
Language: Английский