bims-curels Biomed News
on Leigh syndrome
Issue of 2025–05–25
eight papers selected by
Cure Mito Foundation
  1. Therapeutic implications of mitochondrial transfer on stem cell fate in regenerative medicine.
  2. Endocrine manifestations and long-term outcomes of patients with mitochondrial diseases.
  3. Human mitochondrial DNA in public metagenomes: Opportunity or privacy threat?
  4. Significance of gene therapy in neurodegenerative diseases.
  5. Identifying Phenotypes for Earlier Diagnosis of Rare Diseases.
  6. Patient Bridge Role: a new approach for patient and public involvement in healthcare research programmes.
  7. Results of a patient engagement training for health advisors: a study of self-perceived competency enhancements.
  8. Two 55-Word Stories: Reasonable Suspicion and There's an Art to This.
  1. J Transl Med. 2025 May 21. 23(1): 568
    Therapeutic implications of mitochondrial transfer on stem cell fate in regenerative medicine.
    Ying Liu, Waruna Lakmal Dissanayaka, Cynthia Yiu.
      With the discovery of intercellular mitochondrial transfer, the intricate mitochondrial regulatory networks on stem cell fate have aroused intense academic interest. Apart from capturing freely released mitochondria from donor cells, stem cells are able to receive mitochondria through tunneling nanotubes (TNTs), gap junctional channels (GJCs) and extracellular vesicles (EVs), especially when undergoing stressful conditions such as inflammation, hypoxia, chemotherapy drug exposure, and irradiation. Stem cells that are potentiated by exogenous mitochondria show enhanced potential for proliferation, differentiation, and immunomodulation. The well-tolerated nature of either autogenous or allogenous mitochondria when locally injected in the human ischemic heart has validated the safety and therapeutic potential of mitochondrial transplantation. In children diagnosed with mitochondrial DNA deletion syndrome, functional improvements have been observed when empowering their hematopoietic stem cells with maternally derived mitochondria. Apart from the widely investigated applications of mitochondrial transfer in ischemia-reperfusion injury, neurodegenerative diseases and mitochondrial diseases etc., therapeutic potentials of mitochondrial transfer in tissue repair and regeneration are equally noteworthy, though there has been no systematic summary in this regard.This review analyzed the research and development trends of mitochondrial transfer in stem cells and regenerative medicine over the past decade from a bibliometric perspective, introduced the concept and associated mechanisms of mitochondrial transfer, summarized the regulations of intercellular mitochondrial transfer on stem cell fate. Finally, the therapeutic application of mitochondrial transplantation in diseases and tissue regeneration has been reviewed, including recent clinical studies related to mitochondrial transplantation.Mitochondrial transfer shows promise in modifying and reshaping the cellular properties of stem cells, making them more conducive to regeneration. Mesenchymal stem cells (MSCs)-derived mitochondria have shown multifaceted potential in promoting the revitalization and regeneration of cardiac, cutaneous, muscular, neuronal tissue. This review integrates novel research findings on mitochondrial transfer in stem cell biology and regenerative medicine, emphasizing the crucial translational value of mitochondrial transfer in regeneration. It serves to underscore the significant impact of mitochondrial transfer and provides a valuable reference for further exploration in this field.
    Keywords:  Mitochondrial therapeutics; Mitochondrial transfer; Regenerative medicine; Stem cell fate; Tissue repair
    DOI:  https://doi.org/10.1186/s12967-025-06472-9
  2. Orphanet J Rare Dis. 2025 May 17. 20(1): 235
    Endocrine manifestations and long-term outcomes of patients with mitochondrial diseases.
    Ja Hye Kim, Dohyung Kim, Soojin Hwang, Gu-Hwan Kim, Beom Hee Lee, Han-Wook Yoo, Jin-Ho Choi.
       BACKGROUND: Endocrine dysfunctions are commonly associated with mitochondrial diseases. This study aimed to investigate clinical characteristics and outcomes of endocrine manifestations in patients with mitochondrial diseases.
    METHODS: This study included 54 patients from 47 families with mitochondrial diseases who were genetically confirmed; 49 patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), four with Pearson syndrome, and one with Kearns-Sayre syndrome (KSS). Clinical and endocrine findings were retrospectively reviewed.
    RESULTS: The median age at diagnosis was 18.5 years (range, 0.1 - 49 years). In 49 patients with MELAS, the mean height and weight standard deviation scores were - 2.0 ± 1.3 and - 2.6 ± 1.6, respectively, with 44.9% (n = 22) of the patients exhibiting short stature at diagnosis. Twenty-three (46.9%) patients with MELAS were diagnosed with diabetes mellitus (DM) at a median age of 26 years (range, 12 - 50 years). Interestingly, papillary thyroid cancer was observed in 10.2% of patients (n = 5) with MELAS at a mean age of 34.1 ± 6.9 years. One patient with MELAS and one with KSS exhibited hypoparathyroidism. Patients with Pearson syndrome and KSS exhibited more severe short stature. Adrenal insufficiency was noted in 50% of the patients with Pearson syndrome.
    CONCLUSIONS: In 20% of patients with MELAS, endocrine dysfunctions including having a short stature, DM, and hypoparathyroidism preceded the onset of neurological manifestations. Papillary thyroid cancer occurred in 10% of patients with MELAS. Patients with Pearson syndrome and KSS showed profound growth retardation and multisystem dysfunctions, such as chronic kidney disease and neurological defects, which contributed to increased mortality.
    Keywords:  Adrenal insufficiency; Diabetes mellitus; Hypoparathyroidism; Kearns–Sayre syndrome; Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes; Pearson syndrome
    DOI:  https://doi.org/10.1186/s13023-025-03773-6
  3. Cell. 2025 May 15. pii: S0092-8674(25)00296-X. [Epub ahead of print]188(10): 2561-2566
    Human mitochondrial DNA in public metagenomes: Opportunity or privacy threat?
    Mohamed S Sarhan, Giacomo Antonello, Hansi Weissensteiner, Claudia Mengoni, Deborah Mascalzoni, Levi Waldron, Nicola Segata, Christian Fuchsberger.
      Human DNA is unavoidably present in metagenomic analyses of human microbiomes. While current protocols remove human DNA before submission to public repositories, mitochondrial DNA (mtDNA) has been overlooked and frequently persists. We discuss the privacy risks and research opportunities associated with mtDNA, urging consideration by the scientific, ethics, and legal communities.
    DOI:  https://doi.org/10.1016/j.cell.2025.03.023
  4. Front Neurosci. 2025 ;19 1515255
    Significance of gene therapy in neurodegenerative diseases.
    Lingling Wang, Lin Ma, Zihan Gao, Ying Wang, Jiaoxue Qiu.
      Gene therapy is an approach that employs vectors to deliver genetic material to target cells, aiming to correct genes with pathogenic mutations and modulate one or more genes responsible for disease progression. It holds significant value for clinical applications and offers broad market potential due to the large patient population affected by various conditions. For instance, in 2023, the Food and Drug Administration (FDA) approved 55 new drugs, including five specifically for gene therapy targeting hematologic and rare diseases. Recently, with advancements in understanding the pathogenesis and development of neurodegenerative diseases (NDDs), gene therapy has emerged as a promising avenue for treating Alzheimer's disease (AD), Parkinson's disease (PD), Huntington's disease (HD), amyotrophic lateral sclerosis (ALS), and spinal muscular atrophy (SMA), particularly in personalized medicine. Notably, the FDA has approved three clinical applications for combating SMA, utilizing viral vectors delivered via intravenous and intrathecal injections. However, gene therapy for other NDDs remains in clinical trials, necessitating improvements in viral vectors, exploration of new vectors, optimization of delivery routes, and further investigation into pathogenesis to identify novel targets. This review discusses recent advancements in gene therapy for NDDs, offering insights into developing new therapeutic strategies.
    Keywords:  Alzheimer's disease (AD); Huntington disease (HD); Parkinson's disease (PD); amyotrophic lateral sclerosis (ALS); gene therapy; spinal muscular atrophy (SMA)
    DOI:  https://doi.org/10.3389/fnins.2025.1515255
  5. Stud Health Technol Inform. 2025 May 15. 327 123-127
    Identifying Phenotypes for Earlier Diagnosis of Rare Diseases.
    Casey N Ta, Cong Liu, Chunhua Weng.
      Rare diseases, while individually rare, cumulatively affect a large population, and patients often undergo long and arduous diagnostic odysseys. Toward the goal of supporting earlier diagnosis of rare diseases, we developed generalizable methods of extracting rare diseases and phenotypes from structured electronic health records and clinical notes. We analyzed the distributions of the age of onset of phenotypes per disease to identify disease-phenotype associations, producing a dataset with over 500 thousand associations covering 2300 rare diseases. Disease-phenotype associations are characterized by disease prevalence and mean age of onset of the phenotype to aid phenotype selection according to the priorities of the clinical decision support task.
    Keywords:  Clinical Notes; Electronic Health Records; Phenotypes; Rare Diseases
    DOI:  https://doi.org/10.3233/SHTI250286
  6. BMJ Open. 2025 May 15. 15(5): e094521
    Patient Bridge Role: a new approach for patient and public involvement in healthcare research programmes.
    Beccy Summers, Leon Farmer, Sharon Cooper, Christian von Wagner, Bettina Friedrich, Gary A Abel, Anne Spencer, Emma Cockcroft.
       BACKGROUND: Patient and public involvement (PPI) in research involves an active collaboration between patients/members of the public and researchers in equal partnership. PPI in health research ensures the research benefits those most impacted by the research and is a well-established necessity of high-quality research. PPI for large programmes of work involving multiple studies frequently relies on a single PPI group that oversees the entire programme. We believe that this 'traditional' approach can negatively contribute to the power imbalance between researchers and PPI members, since PPI members have a very wide remit and are unable to embed themselves fully in all aspects of the research.
    AIM: The study aimed to evaluate a novel PPI approach, the 'Patient Bridge Role', designed to promote a more equal distribution of power between public collaborators and researchers in a large research programme. The Patient Bridge Role involves assigning specific public collaborators to each work package, facilitating deeper engagement and communication.
    MAIN ARGUMENT: The Patient Bridge Role addresses the limitations of traditional PPI. This approach requires clear role definitions and collaborative development of guidelines to ensure effective communication and shared decision-making. Despite initial challenges related to role clarity and boundaries, the Patient Bridge Roles successfully promoted a more balanced partnership between researchers and public collaborators.
    CONCLUSIONS: Active partnerships between public collaborators and researchers are critical to creating more relevant and higher quality research. Yet, there are many practical and conceptual barriers to this. The Patient Bridge Role offers a promising strategy for enhancing PPI in large research programmes.
    Keywords:  Patient Participation; Patients; Primary Health Care
    DOI:  https://doi.org/10.1136/bmjopen-2024-094521
  7. Res Involv Engagem. 2025 May 23. 11(1): 54
    Results of a patient engagement training for health advisors: a study of self-perceived competency enhancements.
    Eduardo Perez-Guagnelli, Nicole Jardine, Amye Leong, Chris Rao, Michael Cohen, Annabel De Maria.
       BACKGROUND: In recent years, there has been increasing recognition of the importance of patient engagement (PE) in the healthcare industry, especially throughout the product development lifecycle. However, there is limited research on the influence of PE training on the attitudes, knowledge, and skills of health advisors working in the life sciences, who have a substantial effect on decisions made throughout the product lifecycle in the healthcare industry. This study aimed to assess the effectiveness of a patient engagement training course tailored to healthcare consultants, focusing on changes in self-perceived knowledge, skills and attitudes before and after training.
    METHODS: Eighty healthcare consultants of varying seniority levels from a single company based throughout the U.S. and Europe completed a six-part online training course on patient engagement. The training covered various concepts, and the participants were assessed via a modified evidence-based practice questionnaire before and after the course to measure changes in self-perceived knowledge, skills, and attitudes. The study used paired samples t-tests and bivariate Pearson's correlation analyses to evaluate the differences.
    RESULTS: Following the training, the consultants reported significant improvements in their perceived KSAs toward patient engagement (PE). The most substantial increase was observed in knowledge scores, followed by skills and attitudes. These improvements were particularly notable among lower- to mid-level consultants, especially associate consultants. The training highlighted the need to further health advisors' understanding of PE and the opportunity training can provide.
    CONCLUSIONS: Patient engagement (PE) training significantly improves healthcare consultants' self-perceived knowledge and skills while increasing attitudes and promoting patient-centered approaches throughout the life science industry. This study highlights the importance of standardized PE training programs in enhancing healthcare outcomes and advocates for the integration of patient engagement in healthcare research and development.
    Keywords:  Healthcare consultant; KSA framework; Patient engagement; Product development lifecycle
    DOI:  https://doi.org/10.1186/s40900-025-00711-5
  8. HCA Healthc J Med. 2025 ;6(2): 205
    Two 55-Word Stories: Reasonable Suspicion and There's an Art to This.
    Angel Ogbeide.
      Description Narrative medicine, specifically the 55-word story, provides clinicians an opportunity to reflect on experiences they encounter and garner significant meaning from them. These 2 stories discuss difficult situations I have experienced in my practice of medicine. "Reasonable Suspicion" is an internal reflection on the weight of the complex decisions providers are often faced with (mandatory reporting, etc) and are not emphasized enough in health care. Doing the right thing in a clinical situation is taught. How doing the right thing can make a provider feel is not. "There's an Art to This" discusses grief. How do you grieve a patient? How do you help a colleague grieve their patient? These are questions providers often wrestle with. These are questions I struggled to answer during my time covering craniofacial trauma.
    Keywords:  55-word story; grief; humanities; mandatory reporting; medicine in the arts; patient care; short stories
    DOI:  https://doi.org/10.36518/2689-0216.1770
This page is being maintained by Thomas Krichel. It was last updated on 2025‒05‒25 at 1:07.