bims-ripira 2026-01-11 papers

bims-ripira

Biomed News

on RRM2B MDMD in Adults

Issue of 2026–01–11
fourteen papers selected by
Martín Lopo

Mitochondrial Dysfunction in Inflammatory Skin Diseases: Mechanisms, Biomarkers, and Emerging Therapeutic Strategies.
Pharmaceutical Roots to Mitochondrial Routes: Targeting Neurodegeneration.
Chronic stress and the mitochondria-telomere axis: human evidence for a bioenergetic-debt model of early aging.
Mitophagy in the pathogenesis and management of disease.
Association of Mitochondrial DNA Haplogroups with Pediatric Systemic Lupus Erythematosus Disease Activity, Damage Scores, and Lupus Nephritis.
Mitochondrial DNA Maintenance Defects: Clinical, Imaging, and Genetic Spectrum of Four Patients from a Single Tertiary Care Centre.
Supporting People with Swallowing Problems in Home Care.
The clinically available supplement pyruvate enhances the therapeutic effect of bortezomib in MM by modulating mitochondrial metabolism.
Metformin Attenuates ox-LDL-Induced Macrophage Senescence and Inflammation via NR4A1-Mediated Mitophagy Regulation.
Immune Cell Mitochondrial Phenotypes Are Largely Preserved in Mitochondrial Diseases and Do Not Reflect Disease Severity.
Mitochondrial dysregulation as a central mechanism in autism spectrum disorder pathogenesis.
Mitochondrial Health Through Nicotinamide Riboside and Berberine: Shared Pathways and Therapeutic Potential.
Can bacteria control the human brain?
Emotional and autoimmune triggers in Takotsubo cardiomyopathy: A case report of a young female with systemic lupus erythematosus.

Drug Dev Res. 2026 Feb;87(1): e70221

Mitochondrial Dysfunction in Inflammatory Skin Diseases: Mechanisms, Biomarkers, and Emerging Therapeutic Strategies.

Mei Li, Guowei Zhao, Guo-Wei Zhao, Jie Shen.

  Mitochondrial dysfunction critically underpins the pathogenesis of inflammatory skin diseases such as psoriasis, vitiligo, atopic dermatitis, and impaired wound healing. This comprehensive review synthesizes recent evidence to elucidate mechanisms, including compromised bioenergetics, excessive reactive oxygen species (ROS), mitochondrial DNA (mtDNA) damage, and aberrant mitochondrial dynamics. Distinct from prior work, this analysis uncovers novel findings: mtDNA acts as a damage-associated molecular pattern, activating cyclic GMP-AMP synthase-stimulator of interferon genes (cGAS-STING) pathways to drive type I interferon in vitiligo and IL-17A in psoriasis; succinate-mediated immune-metabolic signaling amplifies type 2 inflammation in atopic dermatitis; and subclinical mitochondrial impairments in non-lesional skin serve as early indicators of disease susceptibility across these conditions. Preclinical studies have shown that emerging therapies, including antioxidants (e.g., NMN), mitochondrial modulators (e.g., SS31), senotherapeutics, and mitochondrial transplantation, are promising strategies for restoring cellular function. Future research should focus on multi-omics to dissect mitochondrial-epigenetic interactions, validate mitochondrial metabolites like succinate as diagnostic biomarkers, and explore synergistic combination therapies. This integrative framework of mitochondrial-driven pathology provides fresh perspectives to advance diagnostic and therapeutic innovation in dermatology.

Keywords:  atopic dermatitis; emerging therapies; mitochondrial DNA (mtDNA); mitochondrial dysfunction; psoriasis; vitiligo

DOI:  https://doi.org/10.1002/ddr.70221
Pharm Res. 2026 Jan 08.

Pharmaceutical Roots to Mitochondrial Routes: Targeting Neurodegeneration.

Abhilasha Sood, Arpit Mehrotra.

   BACKGROUND: Mitochondria besides being the powerhouse of the cell are also involved in performing a multitude of critical cellular functions. Any failure in maintenance of these organelles is implicated in multiple human pathologies, including neurodegenerative disorders. Over the past two decades, significant efforts have been made to investigate the pharmacodynamic propensity of various potential compounds, which could be engaged as efficient therapeutic approach in modulating mitochondrial dynamics during neuronal dysfunctions.
METHOD: This review comprehensively overviews the contribution of potential compounds that could be employed as mitochondrial medicine in reversing neurological pathologies, with special focus on their significant roles as: metabolic antioxidants, conjugated molecules for mitochondrial function modulation, mitochondrial targeted peptides, optogenetic based induction of the mitochondria, potential mitochondrial biomarkers and other advanced transportation systems for mitochondrial delivery to brain.
RESULTS AND DISCUSSION: The manuscript discusses the mechanism of action of potential compounds (natural and pharmacologically synthesized), and other advance approaches that could efficiently modulate mitochondrial machinery in terms of regulating mitochondrial biogenesis, mitophagy, bioenergetics pathways, oxidative stress, calcium homeostasis and mitochondrial DNA stability.
CONCLUSION: The optimal maintenance of mitochondrial dynamics offered by variety of mitochondria targeting compounds highlights their prospective value for considering them as futuristic neurotherapeutic agents, which could be considered in managing neurodegenerative conditions.

Keywords:  antioxidants; mitochondria; mitochondrial dynamics; neuroprotection; pharmaceutics

DOI:  https://doi.org/10.1007/s11095-025-04004-0
Biogerontology. 2026 Jan 06. 27(1): 33

Chronic stress and the mitochondria-telomere axis: human evidence for a bioenergetic-debt model of early aging.

Torsak Tippairote, Pruettithada Hoonkaew, Aunchisa Suksawang, Prayfan Tippairote.

  Chronic stress has been linked to mitochondrial dysfunction and impaired telomere maintenance, yet the mechanistic relationships connecting these pathways in humans remain poorly resolved. Using longitudinal findings from the Guillén-Parra cohort as a motivating human example, this Perspective offers a reinterpreted framework that proposes a unifying energetic interpretation in which bioenergetic insufficiency-defined as a mismatch between stress-induced energetic demand and mitochondrial throughout-rather than accumulated molecular damage, forms the upstream constraint linking stress physiology, mitochondrial performance, and telomerase regulation. In this cohort, lower baseline mitochondrial energetic capacity predicted greater longitudinal declines in telomerase activity, while telomere length remained stable across the short observation window, supporting the view that telomerase activity represents an early, energy-sensitive marker of unresolved stress adaptation, whereas telomere shortening is a delayed structural consequence. Interpreted within the Exposure-Related Malnutrition (ERM) framework, these patterns suggest that repeated activation of stress-response pathways without adequate metabolic recovery limits mitochondrial throughput and progressively compromises genome maintenance. In contrast, repeated exposure to mild stressors followed by sufficient recovery promotes adaptive strengthening of mitochondrial function and telomeric maintenance, consistent with physiological hormesis. We outline a roadmap integrating telomerase activity with dynamic indices of mitochondrial and redox function, including NAD⁺ availability, and emerging biomarkers of systemic energetic strain, such as circulating cell-free mitochondrial DNA and GDF15. By reframing aging phenotypes as early-stage failures of energetic resolution, this model highlights modifiable windows of vulnerability and hormesis-informed strategies-including exercise-induced adaptive stress, circadian alignment, and nutritional sufficiency-as actionable pathways for preserving mitochondrial resilience and telomere maintenance.

Keywords:  Bioenergetic stress; Cellular senescence; Mitochondrial energetics; Psychological stress; Telomerase activity

DOI:  https://doi.org/10.1007/s10522-025-10377-x
Cell Res. 2026 Jan;36(1): 11-37

Mitophagy in the pathogenesis and management of disease.

Qi Wang, Yu Sun, Terytty Yang Li, Johan Auwerx.

Mitophagy, an evolutionarily conserved quality-control process, selectively removes damaged mitochondria to maintain cellular homeostasis. Recent advances in our understanding of the molecular machinery underlying mitophagy - from receptors and stress-responsive triggers to lysosomal degradation - illustrate its key role in maintaining mitochondrial integrity and adapting mitochondrial function to ever-changing physiological demands. In this review, we outline the fundamental mechanisms of mitophagy and discuss how dysregulation of this pathway disrupts mitochondrial function and metabolic balance, driving a wide range of disorders, including neurodegenerative, cardiovascular, metabolic, and immune-related diseases, as well as cancer. We explore the dual role of mitophagy as both a disease driver and a therapeutic target, highlighting the efforts and challenges of translating mechanistic insights into precision therapies. Targeting mitophagy to restore mitochondrial homeostasis may be at the center of a large range of translational opportunities for improving human health.

DOI: https://doi.org/10.1038/s41422-025-01203-7
J Clin Med. 2025 Dec 23. pii: 86. [Epub ahead of print]15(1):

Association of Mitochondrial DNA Haplogroups with Pediatric Systemic Lupus Erythematosus Disease Activity, Damage Scores, and Lupus Nephritis.

Viraat Udar, Shari R Atilano, Alexis V Stephens, Ryan Yu-Sheng Chang, Nicholas J Jackson, Steven Y Chang, Marilyn Chwa, Deborah McCurdy.

  Mitochondria, which have critical roles in energy metabolism and oxidative regulation, also have a role in immune regulation including T cell activation, NET formation, inflammation, and apoptosis. More than 50% of those with systemic lupus erythematosus (SLE) have lupus nephritis due to kidney damage from immune complex deposition. Disease severity is reported to be greater in certain lineages. Mitochondrial DNA (mtDNA) haplogroups, which reflect maternal lineages, may modulate immune balance and disease outcomes in SLE. Methods: DNA was extracted from 25 consecutive, consenting pediatric patients that fulfilled the 1997 criteria for SLE and their maternal mitochondrial DNA (mtDNA) haplogroups were determined through next-generation sequencing (NGS). Results: This study evaluated the associations between mtDNA haplogroups, lupus nephritis, and organ damage in four mtDNA haplogroups: African (n = 5), Amerindian (n = 12), Asian (n = 4), and Caucasian (n = 4). Clinical data, SLE Disease Activity Index (SLEDAI-2K), SLICC Damage Index (SDI), and renal biopsy findings were analyzed. Median SLEDAI-2K scores were higher in Amerindian (10) and African (8) patients than in the Caucasian (5.5) and Asian (3) groups, with significant differences between Amerindian vs. Caucasian (p = 0.045) and Amerindian vs. Asian (p = 0.008). Irreversible organ damage (SDI > 1) was more frequent in Amerindian (54%) and African (40%) patients. Lupus nephritis occurred most often and most severely (Class III-IV, CKD) in the Amerindian (85%) and African (80%) groups, while Caucasian and Asian patients more often showed milder, membranous disease without CKD. Conclusion: Although limited by the small sample size, pediatric SLE severity and renal involvement were found to be greater in Amerindian and African mtDNA haplogroups, suggesting that mitochondrial lineage may contribute to ethnic disparities in SLE.

Keywords:  Systemic Lupus Internal Collaborating Clinics (SLICC) Damage Index (SDI); lupus nephritis; mitochondria; mitochondrial (mt) DNA haplogroup; pediatric SLE (pSLE); systemic lupus erythematosus (SLE); systemic lupus erythematosus Disease Activity Index (SLEDAI-2K)

DOI:  https://doi.org/10.3390/jcm15010086
Ann Indian Acad Neurol. 2026 Jan 08.

Mitochondrial DNA Maintenance Defects: Clinical, Imaging, and Genetic Spectrum of Four Patients from a Single Tertiary Care Centre.

Deepak Amalnath, Jayaram Saibaba, Vaibhav Wadwekar, Krishnan Nagarajan, Santhakumar Senthilvelan.

   ABSTRACT: Mitochondrial DNA maintenance defects (MDMD) are rare genetic disorders that typically present in infancy but can manifest later with multi-organ involvement. We describe four MDMD cases (age 19-25) with distinct clinical and genetic profiles and delayed diagnosis. Two patients with mitochondrial neurogastrointestinal encephalomyopathy (homozygous TYMP variants: c.454G>T, c.866A>C) exhibited cachexia, ptosis, neuropathy, and confluent white matter hyperintensities leukodystrophy. Two others with MPV17 (c.293C>T) presented with neuromyopathy and hepatosplenomegaly; one showed novel concentric ring lesions on magnetic resonance imaging (MRI). Despite severe white matter changes/leukodystrophy, cognition was preserved. Diagnoses were delayed due to atypical gastrointestinal or neuromuscular symptoms. This series highlights the diagnostic challenge of MDMD and underscores that it should be considered in adolescents or young adults with unexplained neuropathy, white matter hyperintensities/leukodystrophy, or cachexia, even without classic hepatic or encephalopathic features. Genetic testing is essential for diagnosis, as phenotypic variability often obscures underlying MDMD. Our findings underscore the need for increased awareness of this delayed-diagnosis presentation to enable timely intervention.

Keywords:  MPV17-related mitochondrial disease; Mitochondrial DNA maintenance defects (MDMD); mitochondrial neurogastrointestinal encephalomyopathy

DOI:  https://doi.org/10.4103/aian.aian_843_25
Home Healthc Now. 2026 Jan-Feb 01;44(1):44(1): 7-13

Supporting People with Swallowing Problems in Home Care.

Ed M Bice, Christine Brandel, Debra Suiter, Kristine E Galek.

Dysphagia management in home-based care presents distinct challenges that may increase professional vulnerability and complicate clinical decision-making. Persistent misconceptions regarding the role of aspiration in pneumonia pathogenesis, as well as the efficacy of dietary modification as a primary intervention, can contribute to adverse clinical outcomes. A synthesis of the current literature highlights alternative strategies and supports a paradigm shift in the management of swallowing disorders. Adopting an evidence-based approach that emphasizes personal autonomy while providing clinicians with accurate and practical guidance has the potential to strengthen clinical practice and enhance the quality of life for individuals with dysphagia.

DOI: https://doi.org/10.1097/NHH.0000000000001398
Cancer Lett. 2026 Jan 07. pii: S0304-3835(26)00008-X. [Epub ahead of print] 218245

The clinically available supplement pyruvate enhances the therapeutic effect of bortezomib in MM by modulating mitochondrial metabolism.

Chenggong Tu, Arne Van der Vreken, Sylvia Faict, Gamze Ates, Ann Massie, Kim De Veirman, Elke De Bruyne, Karin Vanderkerken, Eline Menu.

  Multiple myeloma (MM) is a hematological malignancy characterized by plasma cells residing in the bone marrow. Despite advancements in treatment, including proteasome inhibitors (PIs) such as bortezomib (Bz), drug resistance remains a major challenge. Metabolic reprogramming supports MM survival and drug resistance, with mitochondria emerging as promising therapeutic targets through their control of OXPHOS and mitochondrial reactive oxygen species (Mito-ROS). Using metabolic flux analyses, flow cytometry, and Western blot analysis, we identified pyruvate as a central metabolic intermediate, which not only enhances mitochondrial respiration and Mito-ROS production, but also the Integrated Stress Response (ISR) pathway. Conversely, metformin, an inhibitor of OXPHOS, was still able to activate the ISR pathway, but rather reduced Bz-induced cytotoxicity by decreasing both protein synthesis, and ROS production. Results were confirmed on primary murine and patient samples. Moreover, analysis of the CoMMpass study revealed that patients with prolonged progression-free survival under PI treatment showed enrichment in OXPHOS-related gene, highlighting the importance of mitochondrial metabolism in regulating MM responses to Bz. These data suggest that targeting pyruvate metabolism to increase ROS production could offer a strategy to enhance Bz activity in MM.

Keywords:  ISR; bortezomib; metformin; multiple myeloma; pyruvate

DOI:  https://doi.org/10.1016/j.canlet.2026.218245
Basic Clin Pharmacol Toxicol. 2026 Feb;138(2): e70188

Metformin Attenuates ox-LDL-Induced Macrophage Senescence and Inflammation via NR4A1-Mediated Mitophagy Regulation.

Luling Li, Xiuting Huang, Pei Li.

  Metformin alleviates oxidized low-density lipoprotein (ox-LDL)-induced macrophage senescence, a key process in atherosclerosis. Our in vitro findings demonstrate that metformin suppresses ox-LDL-induced overexpression of the nuclear receptor NR4A1 in macrophages. This inhibition subsequently reduces excessive mitophagy, improves mitochondrial membrane potential and decreases reactive oxygen species (ROS) production. The amelioration of this mitochondrial dysfunction directly attenuated cellular senescence markers and reduced the secretion of inflammatory cytokines. Furthermore, we identified Caveolin-1 as a critical regulator of metformin's protective effects. Overexpression of Caveolin-1 was shown to reverse metformin-mediated improvements in mitochondrial function. These results establish that metformin mitigates macrophage senescence by targeting the NR4A1-mitophagy pathway, with Caveolin-1 serving as an essential modulator. This NR4A1-mitophagy axis represents a promising therapeutic target, positioning metformin as a potential candidate for slowing atherosclerosis progression by preserving mitochondrial health in macrophages.

Keywords:  atherosclerosis; inflammation; macrophage senescence; metformin; ox‐LDL

DOI:  https://doi.org/10.1111/bcpt.70188
Neurol Genet. 2026 Feb;12(1): e200343

Immune Cell Mitochondrial Phenotypes Are Largely Preserved in Mitochondrial Diseases and Do Not Reflect Disease Severity.

Cynthia C Liu, Mangesh Kurade, Anna S Monzel, Catherine Kelly, Robert-Paul Juster, Caroline Trumpff, Michio Hirano, Martin Picard.

Background and Objectives: The aim of this study was to profile immune cell mitochondrial phenotypes in mitochondrial diseases (MitoD) and evaluate how these phenotypes relate to disease manifestations or biomarkers.
Methods: We profiled mitochondrial content and oxidative phosphorylation (OxPhos) enzymatic activities in isolated monocytes, lymphocytes, neutrophils, platelets, and mixed peripheral blood mononuclear cells (PBMCs) from 37 individuals with MitoD (m.3243A > G, n = 23; single, large-scale mitochondrial DNA (mtDNA) deletions, n = 14) and 68 healthy women and men from the Mitochondrial Stress, Brain Imaging, and Epigenetics study.
Results: We first confirmed and quantified robust cell type differences in mitochondrial content; activities of OxPhos complexes I, II, and IV; and the mitochondrial respiratory capacity (MRC) index. In relation to MitoD, neither mitochondrial content nor OxPhos capacity was consistently affected, other than a mild monocyte-specific reduction in complex I (partially mtDNA encoded) relative to complex II (entirely nDNA encoded), consistent with the mtDNA defects examined. Relative to the large differences in cell type-specific mitochondrial phenotypes, differences in MitoD relative to controls were generally small (<25%) across mitochondrial measures. MitoD biomarkers growth differentiation factor 15 and fibroblast growth factor 21, as well as clinical disease severity measures, were most strongly related to mitochondrial abnormalities in platelets, and most weakly related to mitochondrial OxPhos capacity in lymphocytes, which are known to eliminate mtDNA defects. Finally, comparing PBMCs collected in the morning/fasted state with those in the afternoon/fed state after a stressful experience, we report significant time-dependent changes in mitochondrial biology over hours.
Conclusions: Overall, these results demonstrate that the dynamic and cell type-specific mitochondrial phenotypes are preserved in MitoD and are generally unrelated to symptom severity.

DOI: https://doi.org/10.1212/NXG.0000000000200343
J Neuroimmunol. 2025 Dec 31. pii: S0165-5728(25)00332-7. [Epub ahead of print]412 578851

Mitochondrial dysregulation as a central mechanism in autism spectrum disorder pathogenesis.

Xiaoli Liao, Jingqi Shao, Zhihui Chen.

  Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder influenced by both genetic predispositions and environmental insults. However, the precise molecular mechanisms linking prenatal environmental perturbations to neurodevelopmental impairments remain poorly defined. This study investigates the role of mitochondrial dysfunction and metabolic disturbances in ASD pathogenesis using various preclinical models, including the maternal immune activation (MIA) and ASD high-risk gene knockout models. We performed transcriptomic profiling on mouse brain tissues to identify differentially expressed genes (DEGs) associated with mitochondrial and metabolic pathways. Functional enrichment analyses, including Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG), revealed significant disruptions in pathways such as oxidative phosphorylation, tricarboxylic acid, and energy metabolism. These findings point to mitochondrial dysfunction as a central mechanism contributing to metabolic imbalances in ASD. Comparative analysis with publicly available RNA-seq datasets from PTEN knockout model revealed both shared and unique metabolic signatures. Single-cell RNA-seq data from the MIA model further identified cell-type-specific metabolic alterations in distinct neuronal and glial populations. Additionally, analysis of the Human Fetal Single-Cell Atlas highlighted the relevance of these metabolic pathways in human brain development. Collectively, these results emphasize mitochondrial metabolism as a potential therapeutic target for ASD, offering insights into the molecular basis of this disorder.

Keywords:  Autism spectrum disorder; Energy metabolism; Maternal immune activation; Mitochondrial dysfunction; Transcriptomic profiling

DOI:  https://doi.org/10.1016/j.jneuroim.2025.578851
Int J Mol Sci. 2026 Jan 02. pii: 485. [Epub ahead of print]27(1):

Mitochondrial Health Through Nicotinamide Riboside and Berberine: Shared Pathways and Therapeutic Potential.

Federico Visalli, Matteo Capobianco, Francesco Cappellani, Lorenzo Rapisarda, Alfonso Spinello, Alessandro Avitabile, Ludovica Cannizzaro, Caterina Gagliano, Marco Zeppieri.

  Mitochondrial dysfunction represents a central hallmark of aging and a broad spectrum of chronic diseases, ranging from metabolic to neurodegenerative and ocular disorders. Nicotinamide riboside (NR), a vitamin B3 derivative and efficient precursor of NAD+ (nicotinamide adenine dinucleotide), and berberine (BBR), an isoquinoline alkaloid widely investigated in metabolic regulation, have independently emerged as promising mitochondrial modulators. NR enhances cellular NAD+ pools, thereby activating sirtuin-dependent pathways, stimulating PGC-1α-mediated mitochondrial biogenesis, and triggering the mitochondrial unfolded protein response (UPRmt). BBR, by contrast, primarily activates AMPK (AMP-activated protein kinase) and interacts with respiratory complex I, improving bioenergetics, reducing mitochondrial reactive oxygen species, and promoting mitophagy and organelle quality control. Importantly, despite distinct upstream mechanisms, NR and BBR converge on shared signaling pathways that support mitochondrial health, including redox balance, metabolic flexibility, and immunometabolic regulation. Unlike previous reviews addressing these compounds separately, this article integrates current preclinical and clinical findings to provide a unified perspective on their converging actions. We critically discuss translational opportunities as well as limitations, including heterogeneous clinical outcomes and the need for robust biomarkers of mitochondrial function. By outlining overlapping and complementary mechanisms, we highlight NR and BBR as rational combinatorial strategies to restore mitochondrial resilience. This integrative perspective may guide the design of next-generation clinical trials and advance precision approaches in mitochondrial medicine.

Keywords:  NAD+ metabolism; berberine; cardiometabolic disease; mitochondrial dysfunction; neuroprotection; nicotinamide; nicotinamide riboside; oxidative stress; retinal ganglion cells

DOI:  https://doi.org/10.3390/ijms27010485
Commun Integr Biol. 2026 ;19(1): 2603138

Can bacteria control the human brain?

G M Berdichevskiy, E I Ermolеnko, A N Suvorov, M D Didur.

  Nervous and neurodegenerative diseases are considered one of the most common groups among humanity, and the number of these diseases in the population is constantly increasing. At the same time, the prevalence of gastrointestinal and digestive system pathologies is also steadily growing. The literature contains numerous data on the relationship between the nervous system and the digestive system through a bidirectional microbiota-gut-brain axis, as well as connections via the circulatory and immune systems, among others. This work attempts to compile existing literature on this topic, summarize it, identify common patterns, and assess how strongly the gut can influence the course of various CNS disorders. It also aims to identify specific strains that may impact certain disorders and pathologies. Additionally, an effort was made to understand the mechanisms by which the microbiota affects the brain.

Keywords:  Behavior; GABA; biochemistry; biological communication; evolutionary biology; molecular biology; molecules

DOI:  https://doi.org/10.1080/19420889.2025.2603138
Medicine (Baltimore). 2026 Jan 09. 105(2): e47097

Emotional and autoimmune triggers in Takotsubo cardiomyopathy: A case report of a young female with systemic lupus erythematosus.

Ziad W Elmezayen, Alaa Zayed, Enas Samara.

   RATIONALE: Takotsubo cardiomyopathy (TCM), also known as stress-induced cardiomyopathy, is an acute heart condition that mimics acute coronary syndrome and usually affects postmenopausal women. In young patients with autoimmune disorders like systemic lupus erythematosus (SLE), it is uncommon and difficult to diagnose. This case report emphasizes emotional stress and autoimmune flare as co-triggers of TCM and contributes to the limited literature on such presentations.
PATIENT CONCERNS: A 27-year-old woman with SLE presented with acute chest discomfort, palpitations, and shortness of breath after her father's sudden death. She also mentioned weariness, joint discomfort, and anxiety, all of which are typical of a lupus flare.
DIAGNOSES: Electrocardiography revealed sinus tachycardia as well as ST-segment increases in the anterior leads. Troponin I and NT-proBNP levels were found to be increased. Coronary angiography revealed normal coronary arteries, while echocardiography revealed apical ballooning of the left ventricle, confirming the diagnosis of TCM.
INTERVENTIONS: The patient was given intravenous methylprednisolone for lupus flare management, as well as metoprolol, intravenous fluids, hydroxychloroquine, and lisinopril after stabilization. Emotional support and education on stress management were also provided.
OUTCOMES: The patient's cardiac function and lupus activity improved significantly. She was discharged in stable condition after 6 days and remained asymptomatic 3 months later, with no return of cardiovascular symptoms and complete echocardiographic resolution.
LESSONS: This case reinforces the importance of evaluating TCM in young SLE patients with acute chest pain, particularly when emotional stress is involved. Excluding coronary artery disease is essential, and effective management requires a multidisciplinary approach that treats both cardiac and autoimmune components. Preventing recurrence demands integrating emotional and psychological support into the care of chronically ill individuals.

Keywords:  Takotsubo cardiomyopathy; apical ballooning; cardiac imaging; emotional stress; lupus flare; myocardial dysfunction; systemic lupus erythematosus

DOI:  https://doi.org/10.1097/MD.0000000000047097