Related Experiment Video
Updated: Jun 5, 2026
09:39
Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
Published on: July 29, 2016
Molecular genetics of myotonic dystrophy
M B Perryman1, D L Friedman, Y H Fu
1Division of Cardiology, the University of Colorado Health Sciences Center, Denver, CO 80262 USA.
Trends in Cardiovascular Medicine
|January 20, 2011
Summary
Myotonic muscular dystrophy (DM) is caused by unstable DNA repeats. Genetic testing for DM is now simpler due to the isolation of the DM kinase gene. The protein
Area of Science:
- Genetics
- Molecular Biology
- Neurology
Background:
- Myotonic muscular dystrophy (DM) is linked to expanded triplet nucleotide repeat sequences.
- The repeat is located in the 3' untranslated region of a gene encoding a serine-threonine protein kinase.
- The precise function and cellular role of this kinase in DM pathophysiology remain unclear.
Purpose of the Study:
- To detail the genetic basis of Myotonic muscular dystrophy (DM).
- To describe the isolation of genomic and cDNA clones for the DM kinase.
- To highlight the implications of these findings for DM genetic diagnosis.
Main Methods:
- Isolation of genomic DNA clones.
- Isolation of complementary DNA (cDNA) clones.
- Analysis of the 3' untranslated region of the DM gene.
Main Results:
- Identification of an unstable triplet nucleotide repeat sequence as the cause of DM.
- Successful isolation of genomic and cDNA clones for the DM-associated kinase.
- Simplified genetic diagnosis of DM is now achievable.
Conclusions:
- The genetic cause of DM is attributed to specific DNA repeat expansions.
- Availability of DM kinase clones facilitates genetic testing.
- Further research is needed to understand the kinase's function and role in DM.
Related Concept Videos
01:21Satellite Stem Cells and Muscular Dystrophy
Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...
01:11Alterations in Muscle Tone lll
Rigidity and myotonia are distinct abnormalities of muscle tone that affect resistance and relaxation during movement. Although both involve altered muscle contraction, they arise from different neurological and muscular mechanisms.CharacteristicsRigidity is characterized by uniform resistance to passive movement across the entire range, independent of speed, affecting flexors and extensors equally. It may appear as lead-pipe rigidity (smooth, constant resistance) or cogwheel rigidity...
02:59Animal Mitochondrial Genetics
Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
01:13Formation of Muscle Fibers from Myoblasts
De novo myogenesis, or the formation of muscle fibers, begins during the early embryonic stages. The skeletal muscle is formed from somites– blocks of embryonic cell layers. The somites are further divided into dermatomes, myotomes, sclerotomes, and syndetomes. Among these, the myotomes give rise to muscle fibers.
Muscle progenitor cells (MPCs) are formed from the myotomes. MPCs express genes that encode the transcription factors Pax3 and Pax7. Along with Pax 3/7, other transcription factors...
Muscle progenitor cells (MPCs) are formed from the myotomes. MPCs express genes that encode the transcription factors Pax3 and Pax7. Along with Pax 3/7, other transcription factors...