Fibroblasts from patients with myotonic muscular dystrophy: Cholesterol requirement for proliferation and sensitivity to polyene antibiotics

Ohno, Kousaku; Nakano, C; Eda, Isematsu; Takeshita, Kenzo

doi:10.1016/s0387-7604(84)80102-3

Cited by 6 publications

(1 citation statement)

References 21 publications

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“…Since then, Steinert’s disease that was renamed as myotonic dystrophy type 1 or DM1 by the International Myotonic Dystrophy Consortium has been extensively investigated at both clinical and pathophysiologic level. Even before the discovery of the mutation responsible for DM1, primary cells derived from DM1 patients have been used to uncover differences in behavior or cytochemistry ( 19 – 22 ) to study metabolism ( 23 – 26 ) or to understand mechanisms leading to symptoms described in patients, like widely observed insulin resistance ( 27 – 30 ). However, besides learning about the clinical, physiological, and cellular manifestations of DM1, it was essential to define the molecular bases of the disease.…”

Section: Cellular Models In Dm1 Research Historymentioning

confidence: 99%

Cells of Matter—In Vitro Models for Myotonic Dystrophy

et al. 2018

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Myotonic dystrophy type 1 (DM1 also known as Steinert disease) is a multisystemic disorder mainly characterized by myotonia, progressive muscle weakness and wasting, cognitive impairments, and cardiac defects. This autosomal dominant disease is caused by the expression of nuclear retained RNAs containing pathologic expanded CUG repeats that alter the function of RNA-binding proteins in a tissue-specific manner, leading ultimately to neuromuscular dysfunction and clinical symptoms. Although considerable knowledge has been gathered on myotonic dystrophy since its first description, the development of novel relevant disease models remains of high importance to investigate pathophysiologic mechanisms and to assess new therapeutic approaches. In addition to animal models, in vitro cell cultures provide a unique resource for both fundamental and translational research. This review discusses how cellular models broke ground to decipher molecular basis of DM1 and describes currently available cell models, ranging from exogenous expression of the CTG tracts to variable patients’ derived cells.

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