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.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 PLoS+One
2016 ; 11
(11
): e0165550
Nephropedia Template TP
gab.com Text
Twit Text FOAVip
Twit Text #
English Wikipedia
Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney
Failure in Mouse Models of Rett Syndrome
#MMPMID27828991
Ward CS
; Huang TW
; Herrera JA
; Samaco RC
; Pitcher MR
; Herron A
; Skinner SA
; Kaufmann WE
; Glaze DG
; Percy AK
; Neul JL
PLoS One
2016[]; 11
(11
): e0165550
PMID27828991
show ga
Rett Syndrome (RTT) is a neurodevelopmental disorder characterized by loss of
acquired skills during development, autonomic dysfunction, and an increased risk
for premature lethality. Clinical experience identified a subset of individuals
with RTT that present with urological dysfunction including individuals with
frequent urinary tract infections, kidney stones, and urine retention requiring
frequent catheterization for bladder voiding. To determine if urologic
dysfunction is a feature of RTT, we queried the Rett Syndrome Natural History
Study, a repository of clinical data from over 1000 individuals with RTT and
found multiple instances of urological dysfunction. We then evaluated urological
function in a mouse model of RTT and found an abnormal pattern of micturition.
Both male and female mice possessing Mecp2 mutations show a decrease in urine
output per micturition event. Furthermore, we identified signs of kidney failure
secondary to urethral obstruction. Although genetic strain background
significantly affects both survival and penetrance of the urethral obstruction
phenotype, survival and penetrance of urethral obstruction do not directly
correlate. We have identified an additional phenotype caused by loss of MeCP2,
urological dysfunction. Furthermore, we urge caution in the interpretation of
survival data as an endpoint in preclinical studies, especially where causes of
mortality are poorly characterized.
|*Mutation
[MESH]
|Animals
[MESH]
|Databases, Factual
[MESH]
|Disease Models, Animal
[MESH]
|Female
[MESH]
|Gene Expression
[MESH]
|Humans
[MESH]
|Male
[MESH]
|Methyl-CpG-Binding Protein 2/deficiency/*genetics
[MESH]