Mitochondrial disorders are a group of rare and heterogeneous genetic diseases characterized by dysfunctional mitochondria leading to deficient adenosine triphosphate synthesis and chronic energy deficit in patients. The majority of these patients exhibit a wide range of phenotypic manifestations targeting several organ systems, making their clinical diagnosis and management challenging. Bridging translational to clinical research is crucial for improving the early diagnosis and prognosis of these intractable mitochondrial disorders and for discovering novel therapeutic drug candidates and modalities. This review provides the current state of clinical testing in mitochondrial disorders, discusses the challenges and opportunities for converting basic discoveries into clinical settings, explores the most suited patient-centric approaches to harness the extraordinary heterogeneity among patients affected by the same primary mitochondrial disorder, and describes the current outlook of clinical trials.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10903101 | PMC |
| http://dx.doi.org/10.1016/j.neurot.2023.e00311 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.
Neurology
February 2025
Department of Medicine and Geriatrics, Tuen Mun Hospital, Hong Kong, People's Republic of China.
Background And Objectives: Mitochondrial disorders are multiorgan disorders resulting in significant morbidity and mortality. We aimed to characterize death-associated factors in an international cohort of deceased individuals with mitochondrial disorders.
Methods: This cross-sectional multicenter observational study used data provided by 26 mitochondrial disease centers from 8 countries from January 2022 to March 2023.
Uncovering the intricacies of IGF-1 in Alzheimer's disease: new insights from regulation to therapeutic targeting.
Inflammopharmacology
January 2025
Neuropharmacology Division, Department of Pharmacology, ISF College of Pharmacy, Moga, 142001, Punjab, India.
Alzheimer's disease (AD) is a progressive neurodegenerative disorder characterized by the accumulation of amyloid-β plaques and tau tangles, leading to cognitive decline and dementia. Insulin-like Growth Factor-1 (IGF-1) is similar in structure to insulin and is crucial for cell growth, differentiation, and regulating oxidative stress, synaptic plasticity, and mitochondrial function. IGF-1 exerts its physiological effects by binding to the IGF-1 receptor (IGF-1R) and activating PI3K/Akt pathway.
View Article and Find Full Text PDFProhibitins in infection: potential therapeutic targets.
Future Microbiol
January 2025
Jiangsu Key Laboratory of Medical Science and Laboratory Medicine, Department of Laboratory Medicine, School of Medicine, Jiangsu University, Zhenjiang, P. R. China.
Prohibitins (PHBs) are members of a highly conserved family of proteins, including prohibitin1 and prohibitin2. These proteins are predominantly localized in mitochondria, the nucleus, and cell membranes, where they play critical roles in mitochondrial biogenesis, apoptosis, immune regulation, and other biological processes. Recent studies have demonstrated that both PHB1 and PHB2 can act as a complex or independently to participate in the pathogen infection process.
View Article and Find Full Text PDFFSH exacerbates bone loss by promoting osteoclast energy metabolism through the CREB-MDH2-NAD axis.
Metabolism
January 2025
State Key Laboratory of Oral & Maxillofacial Reconstruction and Regeneration, Key Laboratory of Oral Biomedicine Ministry of Education, Hubei Key Laboratory of Stomatology, School & Hospital of Stomatology, Wuhan University, Wuhan 430079, PR China. Electronic address:
Aims: Osteoclast energy metabolism is a promising target for treating diseases characterized by high osteoclast activity, such as osteoporosis. However, the regulatory factors involved in osteoclast bioenergetic processes are still in the early stages of being fully understood. This study reveals the effects of follicle-stimulating hormone (FSH) on osteoclast energy metabolism.
View Article and Find Full Text PDFCobalt polygalacturonates and the pharmacological composition based on them: Preparation, properties and cytotoxicity.
Int J Biol Macromol
January 2025
Arbuzov Institute of Organic and Physical Chemistry, FRC Kazan Scientific Center, Russian Academy of Sciences, Arbuzov Str. 8, Kazan, Russia.
The aim of the present study was to obtain new metal complexes of citrus pectin with cobalt ions based on potassium polygalacturonate and to prepare a new pharmacological composition (PC) PGKCo: PGNaCo (1:1) with antitumor activity based on potassium cobalt polygalacturonate (PGKCo) and sodium cobalt polygalacturonate (PGNaCo). The study of the effect of PGKCo, PGNaCo and PC on the cell viability of tumor cell lines of different genesis in vitro showed that the obtained compounds are soluble in water and exhibit selective cytotoxic activity against the tumor cell lines of human lung carcinoma A549, breast adenocarcinoma MCF-7 and cervical carcinoma M-HeLa, with no significant toxic effect on normal human cells. The possible mechanism of action of the investigated PC on M-HeLa cancer cells was investigated.
View Article and Find Full Text PDFWant 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!