Enzyme replacement prevents neonatal death, liver damage, and osteoporosis in murine homocystinuria
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F17%3A10366201" target="_blank" >RIV/00216208:11110/17:10366201 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/17:10366201
Result on the web
<a href="http://dx.doi.org/10.1096/fj.201700565R" target="_blank" >http://dx.doi.org/10.1096/fj.201700565R</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1096/fj.201700565R" target="_blank" >10.1096/fj.201700565R</a>
Alternative languages
Result language
angličtina
Original language name
Enzyme replacement prevents neonatal death, liver damage, and osteoporosis in murine homocystinuria
Original language description
Classical homocystinuria (HCU) is an inborn error of sulfur amino acidmetabolism caused by deficient activity of cystathionine beta-synthase (CBS), resulting in an accumulation of homocysteine and a concomitant decrease of cystathionine and cysteine in blood and tissues. In mice, the complete lack of CBS is neonatally lethal. In this study, newborn CBS-knockout (KO) mice were treated with recombinant polyethyleneglycolylated human truncatedCBS (PEG-CBS). Full survival of the treatedKOmice, along with a positive impact on metabolite levels in plasma, liver, brain, and kidneys, was observed. The PEG-CBS treatment prevented an otherwise fatal liver disease characterized by steatosis, death of hepatocytes, and ultrastructural abnormalities of endoplasmic reticulum andmitochondria. Furthermore, treatment of the KO mice for 5mo maintained the plasma metabolite balance and completely prevented osteoporosis and changes in body composition that characterize both the KO model and human patients. These findings argue that early treatment of patients with HCU with PEG-CBSmay prevent clinical symptoms of the disease possibly without the need of dietary protein restriction.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30202 - Endocrinology and metabolism (including diabetes, hormones)
Result continuities
Project
—
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2017
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
The FASEB Journal
ISSN
0892-6638
e-ISSN
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Volume of the periodical
31
Issue of the periodical within the volume
12
Country of publishing house
US - UNITED STATES
Number of pages
12
Pages from-to
5495-5506
UT code for WoS article
000416588300031
EID of the result in the Scopus database
2-s2.0-85036568932