Advances in Translational Research in Neuromuscular Diseases

Pleasure, David E

doi:10.1001/archneurol.2011.44

Cited by 3 publications

(3 citation statements)

References 48 publications

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“…Dysregulation of the NLRP3-inflammasome is frequently associated with diverse inflammatory, metabolic, and malignant diseases, including gouty arthritis, Alzheimer’s disease, obesity, type II diabetes, and colorectal cancer [ 148 ]. Other NMDs with increased inflammation are ALS (with aberrant activation of NF-kB) [ 17 ], muscular dystrophies (like BMD and DMD), and inflammatory myopathies. Therefore, proper control of NLRP3-inflammasome activity and overall inflammatory cascade are critical for preventing disease development.…”

Section: Mitochondrial Pathways Altered In Nmdmentioning

confidence: 99%

The Impact of Mitochondrial Deficiencies in Neuromuscular Diseases

2020

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Neuromuscular diseases (NMDs) are a heterogeneous group of acquired or inherited rare disorders caused by injury or dysfunction of the anterior horn cells of the spinal cord (lower motor neurons), peripheral nerves, neuromuscular junctions, or skeletal muscles leading to muscle weakness and waste. Unfortunately, most of them entail serious or even fatal consequences. The prevalence rates among NMDs range between 1 and 10 per 100,000 population, but their rarity and diversity pose difficulties for healthcare and research. Some molecular hallmarks are being explored to elucidate the mechanisms triggering disease, to set the path for further advances. In fact, in the present review we outline the metabolic alterations of NMDs, mainly focusing on the role of mitochondria. The aim of the review is to discuss the mechanisms underlying energy production, oxidative stress generation, cell signaling, autophagy, and inflammation triggered or conditioned by the mitochondria. Briefly, increased levels of inflammation have been linked to reactive oxygen species (ROS) accumulation, which is key in mitochondrial genomic instability and mitochondrial respiratory chain (MRC) dysfunction. ROS burst, impaired autophagy, and increased inflammation are observed in many NMDs. Increasing knowledge of the etiology of NMDs will help to develop better diagnosis and treatments, eventually reducing the health and economic burden of NMDs for patients and healthcare systems.

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Section: Mitochondrial Pathways Altered In Nmdmentioning

confidence: 99%

The Impact of Mitochondrial Deficiencies in Neuromuscular Diseases

2020

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“…Alternatif bir yol olarak insan embriyonik kök hücreleri ve indüklenmiş pluripotent kök hücreleri de kullanılabilir. Ancak birtakım etik sorunlar yanında uzun dönem immünsupresif tedavi kullanımının getireceği yan etkiler de sorun oluşturmaktadır 20 . Bu konuda çalışmalar devam etmekle birlikte, henüz kesin sonuçlar alınmamıştır.…”

Section: Spinal Müsküler Atrofi Ve Kas Hastalıklarıunclassified

Nörolojik Hastalıklarda Kök Hücre Nakli

Hergüner¹

2014

Arşiv Kaynak Tarama Dergisi

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Neurological diseases are characterized by loss of cells in response to an injury or a progressive insult. In recent years, neurons and glia have been generated successfully from stem cells in cultures, fuelling efforts to develop stem-cell-based transplantation therapies for human neurological diseases, such as Parkinson disease, stroke or neuromuscular disorders. In this review, the potential of various cell therapies in childhood neurological diseases are discussed. Key words: Stem-cell therapy, neurological disorders, childhood. ÖZETNörolojik hastalıklar, sıklıkla nöronlarda kayıp veya progresif hasar nedeniyle oluşur. Son yıllarda kök hücre teknikleri ile gerek nöron, gerekse gliaların üretilmesi mümkün olmuş, bu gelişmelere paralel olarak da Parkinson, stroke, kas hastalıkları gibi pek çok nörolojik hastalığın tedavisinde kullanım çalışmaları başlamıştır. Bu yazıda, çocukluk döneminde çeşitli nörolojik hastalıkların tedavisinde hücre tedavilerinin rolü tartışılmıştır. Anahtar kelimeler: Kök hücre tedavisi, nörolojik hastalıklar, çocukluk dönemi. GirişKök hücre tedavisinin, beyin ve spinal kordu etkileyen pek çok hastalığın tedavisinde, gerek etkilenen nöron ve gliaların yenilenmesinde, gerekse nöroproduksiyonda önemli rol oynayacağı düşünülmektedir. Bu uygulama için embriyonik kök hücreler, fetal veya erişkin sinir sistemi kaynaklı hücreler veya diğer organlardan elde edilebilen kök hücreler kullanılabilir 1 . Ancak bu hücrelerin insan kaynaklı olmaları önerilmektedir. Kök hücre

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“…To date, the specific cause of all neuromuscular diseases is not well known, but research has shown that genetic mutations underlie most of them; in fact, more than 500 genes have been associated with the development of neuromuscular disorders. Such heterogeneity and complexity of genetic defects can make it difficult to find effective therapies suitable for different types of neuromuscular pathologies [ 5 ]. Hence, an accurate diagnosis is necessary to identify the type of neuromuscular disease and to develop targeted therapies for individual patients, thus improving their quality of life and mobility, as well as disease outcome.…”

Section: Introductionmentioning

confidence: 99%

An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases

et al. 2021

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Neuromuscular diseases (NMDs) are dysfunctions that involve skeletal muscle and cause incorrect communication between the nerves and muscles. The specific causes of NMDs are not well known, but most of them are caused by genetic mutations. NMDs are generally progressive and entail muscle weakness and fatigue. Muscular impairments can differ in onset, severity, prognosis, and phenotype. A multitude of possible injury sites can make diagnosis of NMDs difficult. Mitochondria are crucial for cellular homeostasis and are involved in various metabolic pathways; for this reason, their dysfunction can lead to the development of different pathologies, including NMDs. Most NMDs due to mitochondrial dysfunction have been associated with mutations of genes involved in mitochondrial biogenesis and metabolism. This review is focused on some mitochondrial routes such as the TCA cycle, OXPHOS, and β-oxidation, recently found to be altered in NMDs. Particular attention is given to the alterations found in some genes encoding mitochondrial carriers, proteins of the inner mitochondrial membrane able to exchange metabolites between mitochondria and the cytosol. Briefly, we discuss possible strategies used to diagnose NMDs and therapies able to promote patient outcome.

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Advances in Translational Research in Neuromuscular Diseases

Cited by 3 publications

References 48 publications

The Impact of Mitochondrial Deficiencies in Neuromuscular Diseases

The Impact of Mitochondrial Deficiencies in Neuromuscular Diseases

Nörolojik Hastalıklarda Kök Hücre Nakli

An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases

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