Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex.
[neonatal adrenoleukodystrophy]
Peroxisome
biogenesis
disorders
(
PBDs
)
are
fatal
autosomal
recessive
diseases
and
are
caused
by
impaired
peroxisome
biogenesis
.
PBDs
are
genetically
heterogeneous
and
classified
into
13
complementation
groups
(
CGs
)
.
CG
8
is
one
of
the
most
common
groups
and
has
three
clinical
phenotypes
,
including
Zellweger
syndrome
(
ZS
)
,
neonatal
adrenoleukodystrophy
,
and
infantile
Refsum
disease
(
IRD
)
.
We
recently
isolated
PEX
26
as
the
pathogenic
gene
for
PBD
of
CG
8
.
Pex
26
p
functions
in
recruiting
to
peroxisomes
the
complexes
of
the
AAA
ATPase
peroxins
,
Pex
1
p
and
Pex
6
p
.
In
the
present
work
,
we
identified
four
distinct
mutations
in
PEX
26
from
five
patients
of
CG
8
PBD
including
2
with
ZS
and
3
with
IRD
,
in
addition
to
7
mutant
alleles
in
8
patients
in
the
first
report
describing
the
pathogenic
PEX
26
gene
for
CG
8
PBD
.
Phenotype-genotype
analyses
revealed
that
temperature-sensitive
(
ts
)
peroxisome
assembly
gave
rise
to
a
milder
IRD
in
contrast
to
the
non-ts
phenotype
of
the
cells
from
ZS
patients
.
Furthermore
,
we
present
several
lines
of
evidence
that
show
that
the
instability
,
insufficient
binding
to
Pex
1
p
x
Pex
6
p
complexes
,
or
mislocalization
of
patient-derived
Pex
26
p
mutants
is
most
likely
responsible
for
the
CG
8
PBDs
.