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Circulatory C-type natriuretic peptide reduces mucopolysaccharidosis-associated craniofacial hypoplasia in vivo

Kashiwagi, Marina 京都大学 DOI:10.14989/doctor.k24787

2023.05.23

概要

Mucopolysaccharidosis (MPS) is an umbrella term for a group of progressive diseases caused
by the impaired activity of specific lysosomal enzymes required for glycosaminoglycan degradation, and is clinically characterised by deafness, joint stiffness, obstructive airway disease,
valvular disease, mental retardation and other manifestations [1, 2].
The estimated overall incidence of MPS is higher than 1:25,000 live births [3], and the life
expectancy is dependent on the severity of the disease, but MPS patients may survive up to
their 50s or 60s [4].
Craniofacial morphology is distinguished by a flat face, a depressed nasal bridge [5] and
foramen magnum stenosis, which can lead to neurological symptoms [6, 7]. MPS is primarily
treated with haematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT) [8].
In HSCT, patients under the age of 24 months show significantly better development, and
the donor is preferred to be a human leukocyte antigen (HLA) identical sibling [9]. GAGmediated damage might be difficult to revert by ERT once it has occurred in the cranial bone
and spine [10]. The efficacy of gene therapy combined with the ex vivo lentiviral modification
of haematopoietic stem and progenitor cells in MPS I mice and humans has been reported,
and with this method, it is possible to achieve higher levels of enzyme expression. However,
this treatment strategy is associated with the risk of tumorigenesis as well as other conditions
[11]. C-type natriuretic peptide (CNP), a member of the natriuretic peptide family, promotes
bone growth and exerts its biological actions through guanylyl cyclase-B (GC-B) [12].
We previously reported that the CNP/GC-B system is a potent stimulator of endochondral
bone growth and that CNP is a potent stimulator of the craniofacial region [13]. Based on
these findings, we hypothesised that the CNP/GC-B system represents a novel therapeutic target for craniofacial hypoplasia in MPS VII. In this study, we analysed the head and neck morphology of MPS type VII model mice and then the effects of CNP and its co-treatment with
ERT in these mice. ...

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