Clinical and genetic heterogeneity in myotonic dystrophies

Meola, G.

doi:10.1002/1097-4598(200012)23:12<1789::aid-mus2>3.0.co;2-4

Cited by 85 publications

(56 citation statements)

References 81 publications

(100 reference statements)

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“…DM1 is the most common form of muscular dystrophy in adults. Symptoms of DM1 include myotonia, muscle weakness and progressive muscle atrophy (Meola, 2000). DM1 is caused by an unstable expansion of CTG trinucleotide repeats found in the 3′-UTR of the DMPK gene (Brook et al, 1992;Fu et al, 1992;Mahadevan et al, 1992).…”

Section: Discussionmentioning

confidence: 99%

MyoD transcription factor induces myogenesis by inhibiting Twist-1 through miR-206

Koutalianos

Koutsoulidou

Mastroyiannopoulos

et al. 2015

Journal of Cell Science

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Twist-1 is mostly expressed during development and has been previously shown to control myogenesis. Because its regulation in muscle has not been fully exploited, the aim of this project was to identify micro (mi)RNAs in muscle that regulate Twist-1. miR-206, one of the most important muscle-specific miRNAs (myomiRs), was identified as a possible regulator of Twist-1 mRNA. Luciferase assays and transfections in human foetal myoblasts showed that Twist-1 is a direct target of miR-206 and that through this pathway muscle cell differentiation is promoted. We next investigated whether MyoD, a major myogenic transcription factor, regulates Twist-1 because it is known that MyoD induces expression of the miR-206 gene. We found that forced MyoD expression induced miR-206 upregulation and Twist-1 downregulation through binding to the miR-206 promoter, followed by increased muscle cell differentiation. Finally, experiments were performed in muscle cells from subjects with congenital myotonic dystrophy type 1, in which myoblasts fail to differentiate into myotubes. MyoD overexpression inhibited Twist-1 through miR-206 induction, which was followed by an increase in muscle cell differentiation. These results reveal a previously unidentified mechanism of myogenesis that might also play an important role in muscle disease.

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Section: Discussionmentioning

confidence: 99%

MyoD transcription factor induces myogenesis by inhibiting Twist-1 through miR-206

Koutalianos

Koutsoulidou

Mastroyiannopoulos

et al. 2015

Journal of Cell Science

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“…Genetically it is an inherited autosomal dominant disorder caused by a single gene mutation consisting of expansion of a CTG trinucleotide motif in the 3V untranslated of the myotonic dystrophy protein kinase gene (DMPK), located on chromosome 19q. It is a multisystemic disease affecting many systems as the central nervous system (cognitive and neuropsychiatric impairments), the heart, the genital tract, the eyes, the ears, gastrointestinal tract, endocrine system, thus leading to a wide and variable complex panel of symptoms (Meola G, 2000). Cognitive impairments, as memory, visuo-spatial recall and verbal scale, cortical atrophy essentially of the frontal and the temporal lobe and white matter lesions are often described in both DM1 and DM2 (Sansone V et al, 2007).…”

Section: Class Iv: Tau Isoform Lacking Exon 2 3 and 10 Principally Amentioning

confidence: 99%

The Microtubule-Dissociating Tau in Neurological Disorders

Fernández-Gómez¹,

Schraen‐Maschke²,

Buée³

2012

Proteomics - Human Diseases and Protein Functions

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“…La forma congénita es el tipo más grave con una prevalencia de 2,5-5,5/100.000 nacidos vivos; se produce fundamentalmente en hijos de madres afectas, ya que los ovocitos de las madres con DM1 permanecen viables incluso en el caso de expansión de miles de repeticiones del codón CTG; mientras que los gametos masculinos con alto número de repeticiones CTG no sobreviven o son incapaces de producir un embarazo viable (2,4).…”

Section: Introduciónunclassified

Enfermedad de Steinert y embarazo: caso clínico

Iacoponi

Cuerva

et al. 2011

Rev. chil. obstet. ginecol.

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RESUMENLa enfermedad de Steinert es una enfermedad genética que se hereda con un patrón autosómico dominante, resultado de la expansión de la repetición de trinucleótidos CTG gen en el cromosoma 19, que codifica una proteína quinasa. Es una forma grave de distrofia muscular caracterizada por debilidad generalizada y degeneración muscular. El debut puede ocurrir en cualquier momento desde el nacimiento hasta la edad madura. Las complicaciones durante el embarazo son el aborto espontáneo, parto prematuro, el hidramnios, atonía uterina posparto, distocias intraparto y accidentes anestésicos. Presentamos el caso de una gestante de 37 años, asintomática con una anamnesis familiar sin patología de interés. Fue diagnosticada de diabetes gestacional y polihidramnios inespecífico en la semana 30 de embarazo. Acudió a nuestro centro en semana 35 de gestación por dinámica uterina y metrorragia. Se realizó una cesárea extrayéndose un feto masculino, con graves dificultades respiratorias y miotonía generalizada. Posteriormente, el neonato fue diagnosticado de enfermedad congénita de Steinert. El análisis genético de la madre reveló que ella padecía la misma enfermedad. El diagnóstico de enfermedad congénita de Steinert es muy difícil, sobretodo cuando los padres no son conscientes de la enfermedad. Nuestro objetivo es enfatizar en la importancia de una buena anamnesis y los marcadores que se pueden encontrar por ultrasonidos, como hidramnios, reducción del tono fetal y los movimientos activos, artrogriposis, micrognatia, que nos puede proporcionar al menos una sospecha prenatal. PALABRAS CLAVE: Enfermedad de Steinert, polihidramnios, distrofia miotónica, embarazo SUMMARYSteinert´s disease is a genetic condition, which is inherited in an autosomal dominant pattern, result from expansion of CTG trinucleotide repeat gene on chromosome 19, enconding a putative protein kinase. It is a severe form of muscular dystrophy marked by generalised weakness and muscular wasting. The onset can be any time from birth to middle age. The complications during pregnancy are miscarriage, premature labour, hydramnios, atonic postpartum hemorrhage, difficulties during delivery, anesthetic accidents. We report the case of a healthy 37 years old pregnant, with an ordinary family anamnesis. She was diagnosed of gestational diabetes and inespecific polyhydramnios during her 30 week of pregnancy. Due to labour contractions and metrorrhagia in the 35 week she came to our emergency department. She underwent a cesarean section delivery of a male baby, who suffered severe breathing difficulties and generalized myotonia. Afterwards, the baby was diagnosticated with Steinert´s congenital disease. Following genetic analysis of the mother revealed that she also suffers Steinert´s disease. The diagnosis of the congenital Steinert´s disease is really difficult, when the parents are unaware of the disease. Our objective is to emphasize in the REV CHIL OBSTET GINECOL 2011; 76(4): 257 -260

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Clinical and genetic heterogeneity in myotonic dystrophies

Cited by 85 publications

References 81 publications

MyoD transcription factor induces myogenesis by inhibiting Twist-1 through miR-206

MyoD transcription factor induces myogenesis by inhibiting Twist-1 through miR-206

The Microtubule-Dissociating Tau in Neurological Disorders

Enfermedad de Steinert y embarazo: caso clínico

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