Hematopoietic stem cell transplantation leads to biochemical and functional correction in two mouse models of acid ceramidase deficiency
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F24%3A10488248" target="_blank" >RIV/00216208:11110/24:10488248 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/24:10488248
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=82Q7-QdqQH" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=82Q7-QdqQH</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.ymthe.2024.08.004" target="_blank" >10.1016/j.ymthe.2024.08.004</a>
Alternative languages
Result language
angličtina
Original language name
Hematopoietic stem cell transplantation leads to biochemical and functional correction in two mouse models of acid ceramidase deficiency
Original language description
Farber disease (FD) and spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) are ultra-rare lysosomal storage disorders caused by deficient fi cient acid ceramidase (ACDase) activity. Although both conditions are caused by mutations in the ASAH1 gene, clinical presentations differ considerably. FD patients usually die in childhood, while SMA-PME patients can live until adulthood. There is no treatment for FD or SMAPME. Hematopoietic stem cell transplantation (HSCT) and gene therapy strategies for the treatment of ACDase deficiency fi ciency are being investigated. We have previously generated and characterized mouse models of both FD and SMA-PME that recapitulate the symptoms described in patients. Here, we show that HSCT improves lifespan, behavior, hematopoietic system anomalies, and plasma cytokine levels and significantly fi cantly reduces histiocytic infiltration fi ltration and ceramide accumulation throughout the tissues investigated, including the CNS, in both models of ACDase-deficient fi cient mice. HSCT was also successful in preventing lesion development and significant fi cant demyelination of the spinal cord seen in SMA-PME mice. Importantly, we note that only early and generally pre-symptomatic treatment was effective, and kidney impairment was not improved in either model.
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
30101 - Human genetics
Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2024
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Molecular Therapy
ISSN
1525-0016
e-ISSN
1525-0024
Volume of the periodical
32
Issue of the periodical within the volume
10
Country of publishing house
US - UNITED STATES
Number of pages
20
Pages from-to
3402-3421
UT code for WoS article
001331075000001
EID of the result in the Scopus database
2-s2.0-85205740497