Stem cell‐derived mitochondria transplantation: A promising therapy for mitochondrial encephalomyopathy

Liu, Kai-Ming; Zhou, Zhijian; Pan, Mengxiong; Zhang, Lining

doi:10.1111/cns.13618

Cited by 24 publications

(15 citation statements)

References 146 publications

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“…Although a number of limitations exist for the current treatment of MELAS, gene therapy remains an attractive research direction. Stem cell-derived mitochondrial transplantation has been shown to play an important role in metabolic rescue ( 18 ), which offers hope for the treatment of MELAS. An earlier onset and increased incidence of clinical symptoms corresponds to a worsened prognosis ( 19 ).…”

Section: Discussionmentioning

confidence: 99%

Diagnosis of adult‑onset MELAS with suspected recurrent strokes: A case report

Yang

Peng

2022

Exp Ther Med

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Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is caused by mutations in mitochondrial DNA and is one of the most common syndromes among the mitochondrial diseases. Clinical manifestations typically occur before the age of 40 years. The present study reports a case of MELAS with a mutation in the adenine to guanine conversion at mitochondrial genome 3243 in a 48-year-old woman who was suspected of suffering from recurrent strokes. Finally, the genomic analysis confirmed the diagnosis of MELAS. This case highlights the importance of considering MELAS as a potential cause of recurrent stroke-like events if imaging findings are atypical for cerebral infarction, even among middle-aged patients with vascular risk factors.

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Section: Discussionmentioning

confidence: 99%

Diagnosis of adult‑onset MELAS with suspected recurrent strokes: A case report

Yang

Peng

2022

Exp Ther Med

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“…In this case, the patient was treated with valproate for 4 years before diagnosis, and we replaced valproate with levetiracetam. For mitochondrial diseases, gene therapy is still a popular research topic, and stem cell-derived mitochondrial transplantation has been shown to play a key role in metabolic rescue, which provides promise for mitochondrial encephalomyopathy ( 17 ). To date, there are a total of 49 registered clinical trials of new experimental drugs for the treatment of mitochondrial diseases, and 10 are Phase III trials.…”

Section: Discussionmentioning

confidence: 99%

Case Report: Mitochondrial Encephalomyopathy Presents as Epilepsy, Ataxia, and Dystonia With a Rare Mutation in MT-TW

2021

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Mitochondrial diseases are a group of common inherited disorders caused by mutations in nuclear DNA or mitochondrial DNA (mtDNA); the clinical phenotype of diseases caused by mutant mtDNA is challenging owing to heteroplasmy of mtDNA and may delay diagnosis and treatment. Herein, we report the case of an adult male who slowly developed epilepsy, ataxia, dystonia, impaired cognition, and hearing impairment over 14 years in the absence of clinical myopathy. His lactate level was normal. Brain computed tomography showed calcifications of the bilateral basal ganglia, thalamus, and cerebellar dentate nuclei. Magnetic resonance imaging revealed multiple lesions in the bilateral internal capsule and periventricular areas, which were hypointense on T1-weighted images and hyperintense on T2-weighted images. The first blood genetic test result was negative. Two years later, a muscle biopsy was performed. Succinate dehydrogenase (SDH) staining showed several ragged blue fibers and atypical strongly SDH-reactive vessels. Cytochrome C oxidase (COX) staining revealed abundant COX-deficient fibers. mtDNA testing of blood and muscle revealed a rare m.5549G>A mutation in the MT-TW gene. It was heteroplasmic, with 5.4% mutant mtDNA in the blood and 61.5% in the muscle. The patient was diagnosed with mitochondrial encephalomyopathy and treated with levetiracetam instead of valproate to reduce possible mitochondrial toxicity. After receiving anti-epileptic drugs and mitochondrial supplements, the patient remained clinically stable. For mitochondrial disease, when mutant mtDNA is not detected in blood, muscle biopsy should be performed in routine analysis, and it should be genetically tested, even if there are no manifestations of myopathy.

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“…It seems that stem cells can transfer mitochondria to the impaired cells via tunneling nanotubes, extracellular vesicles, or by cellular fusion, helping to revive cell energetics in the recipient cell. Mitochondrial transplantation was shown to be successful in the patients suffering from myocardial IR injury, but it is still far from being implemented in clinical practice [ 72 ].…”

Section: Future Directions and Perspectivesmentioning

confidence: 99%

Mitochondrial Implications in Cardiovascular Aging and Diseases: The Specific Role of Mitochondrial Dynamics and Shifts

Poznyak

Кириченко

Borisov

et al. 2022

IJMS

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Cardiovascular disease has been, and remains, one of the leading causes of death in the modern world. The elderly are a particularly vulnerable group. The aging of the body is inevitably accompanied by the aging of all its systems, and the cardiovascular system is no exception. The aging of the cardiovascular system is a significant risk factor for the development of various diseases and pathologies, from atherosclerosis to ischemic stroke. Mitochondria, being the main supplier of energy necessary for the normal functioning of cells, play an important role in the proper functioning of the cardiovascular system. The functioning of each individual cell and the organism as a whole depends on their number, structure, and performance, as well as the correct operation of the system in removing non-functional mitochondria. In this review, we examine the role of mitochondria in the aging of the cardiovascular system, as well as in diseases (for example, atherosclerosis and ischemic stroke). We pay special attention to changes in mitochondrial dynamics since the shift in the balance between fission and fusion is one of the main factors associated with various cardiovascular pathologies.

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Stem cell‐derived mitochondria transplantation: A promising therapy for mitochondrial encephalomyopathy

Cited by 24 publications

References 146 publications

Diagnosis of adult‑onset MELAS with suspected recurrent strokes: A case report

Diagnosis of adult‑onset MELAS with suspected recurrent strokes: A case report

Case Report: Mitochondrial Encephalomyopathy Presents as Epilepsy, Ataxia, and Dystonia With a Rare Mutation in MT-TW

Mitochondrial Implications in Cardiovascular Aging and Diseases: The Specific Role of Mitochondrial Dynamics and Shifts

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