Hereditary human myopathies in muscle culture

Meola, G.

doi:10.1007/bf02337773

Cited by 5 publications

(4 citation statements)

References 49 publications

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“…All day-8 myotubes expressed immunoreactivity for fast heavy myosin and only a few myotubes expressed slow heavy myosin. These observations are consistent with the histochemical findings described by Askanas et al (1) and Meola et al (31), indicating that aneural Sc-culture differentiation to slow fibers is blocked by a missing factor. It could be speculated that this missing factor might be innervation or activity, since in vivo studies show that these factors are necessary to obtain a full slow phenotype (32).…”

Section: Discussionsupporting

confidence: 93%

A cellular model system of differentiated human myotubes

Gaster¹,

Kristensen

Beck‐Nielsen³

et al. 2001

APMIS

110

109

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The aim of this study was to select an effective and stable protocol for the differentiation of human satellite cells (Sc) and to identify the optimal time period for the experimental use of differentiated human Sc-cultures. In order to identify the differentiation conditions which give a good survival of myotubes and a high grade of differentiation, Sc-cultures were induced to differentiate in media supplemented with either 2% fetal calf serum (FCS) 2% horse serum (HS) or 10% HS. Based on higher CK-activities in cultures differentiating in FCS-supplemented media compared to horse sera, fetal calf serum was chosen to induce differentiation. The ATP, DNA and protein content increased during the first 4 days after induction of differentiation and was followed by a period with minor changes. The maximal differences of ATP, DNA and protein between days 4-10 were evaluated and the differences in the three components were found to be less than 20% of the average value with a certainity of more than 0.9. Day 8-myotubes were investigated morphologically and were found immunoreactive for fast myosin, and expressed areas with clear cross striation. We recommend the use of differentiated Sc-cultures in the period from day 4 to 8 after induction of differentiation as only minor differentation-related changes will take place in the cells during this period of time.

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Section: Discussionsupporting

confidence: 93%

A cellular model system of differentiated human myotubes

Gaster¹,

Kristensen

Beck‐Nielsen³

et al. 2001

APMIS

110

109

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“…Isolated Sc's can proliferate, fuse and differentiate into human myotubes and can be kept in culture for weeks. Sc's were initially used in studies of muscle cell development and regeneration as well as in studies of inherited metabolic disorders with identified biochemical defects; however, they have also been used in studies of enzyme defects that affect multiple organ systems [please refer to review ]. Later, human myotube cultures were used in metabolic and signal transduction studies .…”

Section: Human Myotubes As a Model For Skeletal Musclementioning

confidence: 99%

The diabetic phenotype is preserved in myotubes established from type 2 diabetic subjects: a critical appraisal

Gaster

2018

APMIS

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Cultured human myotubes offer a unique model to distinguish between primary and environmental factors in the aetiology of insulin resistance in human skeletal muscle. The objective of this review was to summarize our and other group studies on insulin resistance in human myotubes established from lean, obese and type 2 diabetes (T2D) subjects. Overall, studies of human myotubes established from lean, obese and T2D subjects clearly show that part of the diabetic phenotype observed in vivo is preserved in diabetic myotubes. Diabetic myotubes express a primary coordinated impairment of lipid oxidation, oxidative phosphorylation (OXPHOS) and insulin‐stimulated glucose metabolism. Currently, both the responsible molecular mechanisms as well as the extent to which these alterations depend on genetic and/or epigenetic alterations have yet to be identified. Based on the data, it is hypothesized that the impaired insulin‐mediated glucose metabolism, impaired OXPHOS and reduced lipid oxidation observed in diabetic myotubes are caused by the reduced peroxisome proliferator‐activated receptor gamma coactivator‐1α (PGC1α) expression.

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“…Cell cultures were prepared as previously described (Meola G 1991) from muscle biopsies obtained from patients with congenital and adult forms of myotonic dystrophy types 1 and 2 to study the differentiation and replicative capacity of mutant DM1 and DM2 myoblasts in culture under different conditions.…”

Section: Cell Culturesmentioning

confidence: 99%

Muscle biopsy and cell cultures: potential diagnostic tools in hereditary skeletal muscle channelopathies

Meola¹,

Sansone²,

Rotondo³

et al. 2009

Eur J Histochem

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Hereditary muscle channelopathies are caused by dominant mutations in the genes encoding for subunits of muscle voltage- gated ion channels. Point mutations on the human skeletal muscle Na+ channel (Nav1.4) give rise to hyperkalemic periodic paralysis, potassium aggravated myotonia, paramyotonia congenita and hypokalemic periodic paralysis type 2. Point mutations on the human skeletal muscle Ca2+ channel give rise to hypokalemic periodic paralysis and malignant hyperthermia. Point mutations in the human skeletal chloride channel ClC-1 give rise to myotonia congenita. Point mutations in the inwardly rectifying K+ channel Kir2.1 give rise to a syndrome characterized by periodic paralysis, severe cardiac arrhythmias and skeletal alterations (Andersen’s syndrome). Involvement of the same ion channel can thus give rise to different phenotypes. In addition, the same mutation can lead to different phenotypes or similar phenotypes can be caused by different mutations on the same or on different channel subtypes. Bearing in mind, the complexity of this field, the growing number of potential channelopathies (such as the myotonic dystrophies), and the time and cost of the genetic procedures, before a biomolecular approach is addressed, it is mandatory to apply strict diagnostic protocols to screen the patients. In this study we propose a protocol to be applied in the diagnosis of the hereditary muscle channelopathies and we demonstrate that muscle biopsy studies and muscle cell cultures may significantly contribute towards the correct diagnosis of the channel involved. DNAbased diagnosis is now a reality for many of the channelopathies. This has obvious genetic counselling, prognostic and therapeutic implications

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Hereditary human myopathies in muscle culture

Cited by 5 publications

References 49 publications

A cellular model system of differentiated human myotubes

A cellular model system of differentiated human myotubes

The diabetic phenotype is preserved in myotubes established from type 2 diabetic subjects: a critical appraisal

Muscle biopsy and cell cultures: potential diagnostic tools in hereditary skeletal muscle channelopathies

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