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Urinary tract effects of HPSE2 mutations
#MMPMID25145936
Stuart HM
; Roberts NA
; Hilton EN
; McKenzie EA
; Daly SB
; Hadfield KD
; Rahal JS
; Gardiner NJ
; Tanley SW
; Lewis MA
; Sites E
; Angle B
; Alves C
; Lourenço T
; Rodrigues M
; Calado A
; Amado M
; Guerreiro N
; Serras I
; Beetz C
; Varga RE
; Silay MS
; Darlow JM
; Dobson MG
; Barton DE
; Hunziker M
; Puri P
; Feather SA
; Goodship JA
; Goodship TH
; Lambert HJ
; Cordell HJ
; Saggar A
; Kinali M
; Lorenz C
; Moeller K
; Schaefer F
; Bayazit AK
; Weber S
; Newman WG
; Woolf AS
J Am Soc Nephrol
2015[Apr]; 26
(4
): 797-804
PMID25145936
show ga
Urofacial syndrome (UFS) is an autosomal recessive congenital disease featuring
grimacing and incomplete bladder emptying. Mutations of HPSE2, encoding
heparanase 2, a heparanase 1 inhibitor, occur in UFS, but knowledge about the
HPSE2 mutation spectrum is limited. Here, seven UFS kindreds with HPSE2 mutations
are presented, including one with deleted asparagine 254, suggesting a role for
this amino acid, which is conserved in vertebrate orthologs. HPSE2 mutations were
absent in 23 non-neurogenic neurogenic bladder probands and, of 439 families with
nonsyndromic vesicoureteric reflux, only one carried a putative pathogenic HPSE2
variant. Homozygous Hpse2 mutant mouse bladders contained urine more often than
did wild-type organs, phenocopying human UFS. Pelvic ganglia neural cell bodies
contained heparanase 1, heparanase 2, and leucine-rich repeats and
immunoglobulin-like domains-2 (LRIG2), which is mutated in certain UFS families.
In conclusion, heparanase 2 is an autonomic neural protein implicated in bladder
emptying, but HPSE2 variants are uncommon in urinary diseases resembling UFS.
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