bims-curels 2026-08-09 papers

Issue of 2026–08–09
five papers selected by
Cure Mito Foundation

Neurol Sci. 2026 Aug 06. pii: 683. [Epub ahead of print]47(9):

Drug safety in patients with mitochondrial disease: an observational cohort study.

BACKGROUND: Mitochondrial diseases are common inherited neurometabolic disorders and frequently involve the nervous system, yet their multisystem nature often necessitates complex pharmacological management. Many commonly prescribed medications have off-target effects on mitochondrial function, and patients with mitochondrial disease may be particularly vulnerable to such effects due to impaired energy metabolism. However, systematic data on medication safety in this patient group remain scarce.
METHODS: In this retrospective, single-centre, cohort-based study at Turku University Hospital (Turku, Finland), we reviewed the medication data from all hospital stays and outpatient prescriptions of 44 mostly adult (20 women; mean age 50 years, range 12-83 years) patients with genetically and clinically confirmed mitochondrial disease for years 2010-2022. We used the Anatomical Therapeutic Chemical system for drug classification. Potential drug-drug interactions and potential adverse drug reactions were investigated. Special focus was on potential mitochondrial toxicity of drugs and clinically relevant drug-drug interactions.
RESULTS: Altogether ~ 1000 individual medication entries were reviewed. We identified several common drugs with potentially adverse effects on mitochondria, including metformin, beta-blockers, statins, ciprofloxacin, fluoxetine, ibuprofen, and certain anti-seizure drugs. Medications generally considered contraindicated in mitochondrial disease were not observed. No high-risk drug interactions were detected. Additional finding of clinical relevance was the frequent use of analgesics.
CONCLUSIONS: Further research regarding mitochondrial safety of several drug classes is needed for more evidence-based safety evaluations. Pain in the context of mitochondrial disease merits increased attention.

Keywords: Drug safety; Medication; Mitochondria; Mitochondrial disease; Pharmacological treatment

DOI: https://doi.org/10.1007/s10072-026-09298-5

Ther Adv Rare Dis. 2026 Jan-Dec;7:7 26330040261471914

Cancer prevalence in primary mitochondrial disease patients and their families.

Shrey Dalwadi, Nicole M Engelhardt, Colleen C Muraresku, Kelsey Keith, Kathleen D Valverde, Katherine L Nathanson, Marni J Falk.

Background: While somatic mitochondrial dysfunction occurs in diverse cancers, the association between oncogenesis and germline mitochondrial gene pathogenic variants remains unclear. Further, few clinical observations have been reported of cancer occurring in primary mitochondrial disease (PMD) patients.
Objectives: To improve understanding of the potential modulating role for PMD gene disorders in cancer prevalence.
Design: 727 individuals, including 100 with PMD, from 97 unrelated families were retrospectively surveyed to assess their history of individual cancer occurrence.
Methods: We evaluated survey responses by characterizing the cancer prevalence among the study cohort and comparing to the general U.S. population via the National Cancer Institute (NCI) Surveillance, Epidemiology, and End Results (SEER) database. Odds ratio calculation was performed to determine the association of survey responses and cancer prevalence.
Results: Although overall cancer prevalence in PMD probands and their families was elevated compared to the NCI SEER rate (8800 vs 5600 cases per 100,000), odds ratio calculation determined that PMD did not significantly increase the likelihood of developing cancer, with a non-significant trend observed toward less cancer occuring in PMD that needs to be explored in further studies. Cancer prevalence was significantly correlated with advanced age. Significantly reduced prevalence of prostate cancer was seen across the entire cohort. Surprisingly, while low absolute prevalence (n = 3), a 9-fold increased odds ratio of cancer was seen in POLG patients relative to those with other causes of PMD.
Conclusion: No evidence of increased cancer odds was identified in a cohort of PMD patients and their close relatives. Interestingly, a possible inverse association, which did not reach statistical significance, was suggested between mitochondrial disease status and cancer odds. Future prospective investigations in larger PMD kindreds are warranted to validate and evaluate potential mechanistic relations between cancer prevalence and PMD.

Keywords: POLG; cancer; mitochondria; primary mitochondrial disease

DOI: https://doi.org/10.1177/26330040261471914

Front Neurosci. 2026 ;20 1835506

Targeting mitochondria for the treatment of neurodegenerative diseases.

Qian Li, Ming You.

Mitochondria are central regulators of cellular metabolism, redox balance, calcium signaling, and cell survival, making them essential for neuronal function. Because neurons rely heavily on mitochondrial oxidative phosphorylation to meet their high energetic demands, mitochondrial dysfunction has emerged as a key pathogenic driver in major neurodegenerative diseases, including Alzheimer's disease, Parkinson's disease, Huntington's disease, and amyotrophic lateral sclerosis. Defects in mitochondrial bioenergetics, excessive reactive oxygen species production, impaired mitochondrial dynamics, disrupted mitophagy, and dysregulated calcium handling collectively contribute to neuronal damage, synaptic dysfunction, and neuroinflammation. These insights have prompted growing interest in therapeutic strategies that directly target mitochondria to restore organelle homeostasis. Recent advances in chemical biology and nanomedicine have enabled the development of mitochondria-targeted ligands, peptide-based targeting systems, and carrier or nanotechnology-enabled delivery platforms designed to overcome biological barriers and selectively deliver therapeutic cargos to mitochondria within the central nervous system. In this Review, we summarize mitochondrial pathological mechanisms in neurodegenerative diseases and discuss emerging mitochondria-targeted therapeutic strategies, highlighting delivery technologies, therapeutic modalities, and translational challenges. Although most strategies remain at the preclinical or proof-of-principle stage, these advances are beginning to shape a conceptual framework for precision mitochondrial medicine, with the longer-term goal of developing disease-modifying interventions for neurodegenerative disorders.

Keywords: blood–brain Barrie; mitochondrial dysfunction; mitochondrial targeting; nanocarrier delivery system; neurodegenerative diseases

DOI: https://doi.org/10.3389/fnins.2026.1835506

J Community Genet. 2026 Aug 04. pii: 94. [Epub ahead of print]17(4):

The social construction of the "good doctor": Expectations of physicians among adults with NF1.

Katarzyna Kowal, Jan Domaradzki.

Neurofibromatosis type 1 (NF1) is a rare, genetically determined condition characterised by clinical variability, diagnostic uncertainty, and the need for long-term, multidisciplinary care. In this context, patients' experiences are shaped not only by biomedical factors but also by interactions with healthcare professionals. This study explores how adults with NF1 define the characteristics of a "good doctor" based on their experiences within healthcare systems. A qualitative study was conducted using semi-structured, in-depth interviews with 93 adults diagnosed with NF1. An interpretive qualitative approach was adopted, and the data were analysed using Reflexive Thematic Analysis to examine how patients' expectations toward physicians are formed in the context of ongoing care. Participants' accounts revealed that the "good doctor" is understood as a context-dependent concept shaped by patients' experiences rather than a fixed set of clinical competencies. While medical expertise was considered important, participants emphasised communication, empathy, and acknowledgement of patients' perspectives and experiences. Experiences of delayed diagnosis, fragmented care, and inconsistent information were found to shape expectations toward physicians and influence trust in the healthcare system. Negative interactions, including dismissal of symptoms or lack of understanding, contributed to disengagement from care, whereas respectful, partnership-based relationships supported better coping with the condition. Patients' expectations toward physicians are shaped by their long-term experiences of living with NF1 and navigating healthcare systems. The findings highlight the importance of integrating clinical expertise with patient-centred communication and coordinated care. Strengthening these aspects may improve patient trust, engagement, and overall quality of care in rare genetic conditions.

Keywords: Good doctor; Medical communication; Neurofibromatosis type 1; Patient expectations; Qualitative research; Rare diseases

DOI: https://doi.org/10.1007/s12687-026-00930-7

Front Med (Lausanne). 2026 ;13 1842755

The hidden cost of health misinformation: distrust, treatment refusal, and the burden on healthcare professionals.

Daniel Catalan-Matamoros, Mariola Moreno, Carmen Peñafiel-Saiz.

Background: Health misinformation has become a persistent challenge in contemporary clinical practice, shaping patient beliefs, weakening trust in healthcare professionals, and contributing to the refusal of evidence-based treatments. In the context of the growing influence of digital platforms, frontline health professionals increasingly face consultations in which misinformation must be addressed alongside clinical care.
Methods: A qualitative descriptive design based on semi-structured interviews was administered through an online open-ended questionnaire. Healthcare professionals working in Spain participated in the study. Data were analyzed using inductive thematic analysis to identify recurring patterns related to health misinformation, patient trust, treatment refusal, and professional communication strategies.
Results: The analysis revealed five themes: (1) information sources and misinformation exposure, (2) erosion of trust and clinical friction, (3) patient refusal of evidence-based treatment, (4) the healthcare professional as a debunker, and (5) the need for media literacy and professional training. Participants consistently reported that patients rely heavily on social media, search engines, and non-expert sources, often arriving to consultations with pre-formed beliefs that contradict medical advice. They described misinformation as a source of distrust, emotional exhaustion, and poorer communication in the therapeutic relationship.
Discussion: The findings suggest that misinformation is not merely an online phenomenon but a concrete clinical problem that directly affects trust, communication, and treatment adherence. Healthcare professionals perceive themselves as having an increasingly important educational role, yet many lack formal preparation to respond effectively to misinformation in practice. These results support the integration of health communication and media literacy into professional training.

Keywords: health literacy; health misinformation; infodemic; patient trust; therapeutic alliance

DOI: https://doi.org/10.3389/fmed.2026.1842755