Advanced mitochondrial multi-omics indicate a multi-facet involvement of mitochondria in the physiology of the cell, changing the perception of mitochondria from being just the energy-generating organelles to organelles that highly influence cell structure, function, signaling, and cell fate. This sets mitochondrial dysfunction in the centerstage of numerous acquired and genetic diseases. Sickle cell disease is also being increasingly associated with mitochondrial anomalies and the pathophysiology of sickle cell disease finds mitochondria at crucial intersections in the pathological cascade. Altered mitophagy, increased ROS, and mitochondrial DNA all contribute to the condition and its severity. Such mitochondrial aberrations lead to consequent mitochondrial retention in red blood cells in sickle cell diseases, increased oxidation in the cellular environment, inflammation, worsened vaso-occlusive crisis, etc. There are increasing studies indicating mitochondrial significance in sickle cell disease, consequently providing an opportunity to target it for improving the outcomes of treatment. Identification of the impaired mitochondrial attributes in sickle cell disease and their modulation by therapeutic interventions can impart a better management of the disease. This review aims to describe the mitochondria in the perspective of sicke cell disease so as to provide the reader an overview of the emerging mitochondrial stance in sickle cell disease.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9917941PMC
http://dx.doi.org/10.3390/jcm12030765DOI Listing

Publication Analysis

Top Keywords

sickle cell
28
cell disease
28
cell
11
mitochondrial
9
disease
8
sickle
7
mitochondria
5
mitochondria emerging
4
emerging consequential
4
consequential sickle
4

Similar Publications

Despite extensive research on the impact of stigma on the health-related quality of life (HRQoL) of people with sickle cell disease, gaps remain in understanding the mechanisms through which this association occurs. We investigated how stigma impacts HRQoL among people with sickle cell disease (SCD) through distress and the moderating role of social support in this association. Utilizing a cross-sectional design, we sampled 165 people with SCD in Nigeria, who completed relevant measures.

View Article and Find Full Text PDF

Gene therapy for sickle cell disease: recent advances, clinical trials and future directions.

Cytotherapy

December 2024

Molecular and Clinical Hematology Branch, National Heart, Lung, and Blood Institute, Bethesda, Maryland, USA.

Sickle cell disease (SCD) is the most common inherited blood disorder worldwide, impacting millions and imposing severe healthcare challenges, particularly in resource-limited regions. Current treatments have variable efficacy and require lifelong adherence. Allogeneic Hematopoietic Stem Cell Transplantation can be curative but comes with significant side effects and limited donor availability limits its widespread applicability.

View Article and Find Full Text PDF

Sickle cell disease (SCD) is a prevalent inherited blood disorder, particularly affecting populations in Africa. This review examined the disease's burden, its diverse clinical presentations, and the challenges associated with its management in African settings. Africa bears a significant burden of SCD, with prevalence varying across countries and age groups.

View Article and Find Full Text PDF

Newborn Screening for Six Primary Conditions in a Clinical Setting in Morocco.

Int J Neonatal Screen

December 2024

Laboratory of Genomic, Epigenetics, Precision and Predictive Medicine, School of Medicine, Mohammed VI University of Sciences and Health, Casablanca 82403, Morocco.

Unlabelled: Newborn screening (NBS) represents an important public health measure for the early detection of specified disorders; such screening can prevent disability and death, not only from metabolic disorders but also from endocrine, hematologic, immune, and cardiac disorders. Screening for critical congenital conditions affecting newborns' health is a great challenge, especially in developing countries such as Morocco, where NBS program infrastructure is lacking. In addition, the consanguinity rate is high in Morocco.

View Article and Find Full Text PDF

Evaluation of a New Tandem Mass Spectrometry Method for Sickle Cell Disease Newborn Screening.

Int J Neonatal Screen

November 2024

Laboratoire de Biologie Médicale Multi-Sites (LBMMS), Service de Biochimie et Biologie Moléculaire Grand Est, Hospices Civils de Lyon, 69500 Bron, France.

In France, sickle cell disease newborn screening (SCD NBS) has been targeted to at-risk regions since 1984, but generalization to the whole population will be implemented from November 2024. Although tandem mass spectrometry (MS/MS) is already used for the NBS of several inherited metabolic diseases, its application for SCD NBS has not been widely adopted worldwide. The aim of this study was to evaluate a dedicated MS/MS kit (Targeted MS/MS Hemo, ZenTech, LaCAR Company, Liege, Belgium) for SCD NBS and to compare the results obtained with those from an NBS reference center using matrix-assisted laser desorption/ionization time of flight (MALDI-TOF) and cation-exchange high-performance liquid chromatography (CE-HPLC, Variant NBS, Biorad Laboratories, Inc.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!