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Myotonic Dystrophy (DM)

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Myotonic Dystrophy (DM)

Myotonic dystrophy (DM) is a complex genetic disorder. Our company is dedicated to advancing the field of DM diagnosis through cutting-edge technologies and tailored solutions. By developing innovative IVD reagents/kits and compact diagnostic devices, our aim is to address the complexity of DM pathogenesis and diagnostic challenges, fundamentally transforming the detection and management of this genetic disorder.

Overview of Myotonic Dystrophy

Myotonic dystrophy (DM) stands as a prominent member within the realm of muscular dystrophies, encompassing a spectrum of inheritable disorders. This condition manifests as a progressive degeneration of muscle tissue, yielding symptoms like muscle weakness, myotonia (prolonged muscle contractions), and even cardiac abnormalities. Divided into two principal types, Type 1 and Type 2, this disorder exhibits variances in severity, onset age, and muscle group involvement.

Subtypes Mutant Gene Incidence Severity
Type 1 (DM1) DMPK 1/8,000 – 1/20,000 DM1 is more severe and may be present at birth.
Type 2 (DM2) CNBP 1/16,000 – 1/35,000 DM2 is rare and has milder symptoms.

Pathological Mechanism of Myotonic Dystrophy

Myotonic dystrophy (DM) is caused by abnormal expansion of repetitive DNA sequences within specific genes. DM1 and DM2 are attributed to mutations in different genes: DMPK and CNBP. These mutations result in the formation of expanded RNA molecules, leading to cellular dysfunction and subsequent disease manifestation.

  • Pathogenesis of DM1: The expanded CTG repeat within the DMPK gene leads to the abnormal production of mutant RNA containing repetitive CUG sequences.
  • Pathogenesis of DM2: The expanded CCTG repeat in the CNBP gene leads to the formation of mutant RNA containing repetitive CCUG sequences.

Myotonic dystrophy (DM) pathogenesis.Fig. 1 Myotonic dystrophy (DM) pathogenesis and related genes. (Udd B, Krahe R., 2012)

Genetic Testing for Myotonic Dystrophy

Genetic testing plays a pivotal role in the diagnosis and management of myotonic dystrophy (DM), enabling early detection, personalized therapeutic strategies, and familial risk assessment. Currently, there are many genetic test kits for DM available on the market, which utilize various molecular technologies to identify specific gene mutations.

PCR-Based Testing

PCR is commonly used to detect the expanded trinucleotide (CTG) or tetranucleotide (CCTG) repeats in the DMPK or CNBP genes, respectively, associated with DM1 and DM2.

Southern Blot Analysis

Southern blot analysis is employed to accurately determine the size of expanded repeat sequences, particularly in cases where PCR results are inconclusive or require further validation.

Next-Generation Sequencing

NGS technologies enable comprehensive genomic analysis, facilitating the identification of rare variants and potential modifier genes that may influence disease presentation and progression.

Our Services

Specializing in tailored in vitro diagnostic (IVD) solutions for rare genetic disorders like myotonic dystrophy (DM), our company is dedicated to creating custom genetic testing kits that precisely detect CTG or CCTG repeats in the DMPK or CNBP genes. By leveraging a variety of molecular technologies and integrating them with our diagnostic devices, these kits can achieve maximized detection specificity, sensitivity, and accuracy.

IVD Product Development Services

Our services are not limited to this. To expedite prompt diagnosis and personalized therapies for myotonic dystrophy (DM), we provide point-of-care testing and companion diagnostic development services. These services play a crucial role in enhancing the efficiency and accuracy of DM diagnostics, enabling personalized care strategies for affected individuals.

If you are interested in our services, please feel free to contact us for more details and quotation information of related services.

Reference

  1. Udd B, Krahe R. The myotonic dystrophies: molecular, clinical, and therapeutic challenges[J]. The Lancet Neurology, 2012, 11(10): 891-905.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.