Hereditary Spherocytosis with Mitochondrial Retention, Increased Oxidative Stress, and Alterations to Bioactive Membrane Lipids.
J Pediatr Hematol Oncol
; 46(6): e457-e462, 2024 Aug 01.
Article
em En
| MEDLINE
| ID: mdl-38934620
ABSTRACT
The clinical course for Hereditary Spherocytosis (HS) patients is highly varied, even within families with identical driving mutations. Here, we describe four siblings with HS attributed to an unreported SPTB mutation. All patients displayed an increased fraction of mitochondria-positive erythrocytes. This was associated with increased reactive oxygen species (ROS) generation and alteration to alterations to bioactive membrane lipids associated with oxidant stress. Given the early promise for mitophagy-inducing agents in sickle cell disease and ready availability of antioxidants, this concept warrants continued exploration as a disease-modifying factor and a potential target for therapy.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Esferocitose Hereditária
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Estresse Oxidativo
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Lipídeos de Membrana
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Mitocôndrias
Limite:
Adolescent
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Child
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Child, preschool
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Female
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Humans
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Male
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article