A molecular protocol for diagnosing myotonic dystrophy

1995 ◽  
Vol 41 (1) ◽  
pp. 69-72 ◽  
Author(s):  
M Guida ◽  
R S Marger ◽  
A C Papp ◽  
P J Snyder ◽  
M S Sedra ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Age Of Onset ◽  
Normal Population ◽  
Repeat Sequence ◽  
Kinase Gene ◽  
Protein Kinase Gene ◽  
Initial Polymerase Chain Reaction ◽  
Ctg Expansion ◽  
Polymerase Chain ◽  
Ctg Repeat

Abstract Myotonic dystrophy (DM) is an autosomal dominant genetic disease caused by an unstable CTG repeat sequence in the 3' untranslated region of the myotonin protein kinase gene. The CTG repeat is present 5-30 times in the normal population, whereas DM patients have CTG expansions of 50 to several thousand repeats. The age of onset of the disorder and the severity of the phenotype is roughly correlated with the size of the CTG expansion. We developed a molecular protocol for the diagnosis of DM based on an initial polymerase chain reaction screen to detect normal-sized alleles and small expansions, followed by an improved Southern protocol to detect larger expansions.

Myotonic dystrophy: An unstable CTG repeat in a protein kinase gene

1995 ◽  
Vol 6 (1) ◽  
pp. 13-19 ◽  
Author(s):  
Luba Timchenko ◽  
Darren G. Monckton ◽  
C.Thomas Caskey
Keyword(s):  
Protein Kinase ◽  
Myotonic Dystrophy ◽  
Kinase Gene ◽  
Protein Kinase Gene ◽  
Ctg Repeat

scholarly journals Molecular anatomy of CTG expansion in myotonin protein kinase gene among myotonic dystrophy patients from eastern India

2000 ◽  
Vol 16 (4) ◽  
pp. 372-372 ◽  
Author(s):  
Priyadarshi Basu ◽  
Prasanta K. Gangopadhaya ◽  
Subhas C. Mukherjee ◽  
Shyamal K. Das ◽  
Krishna K. Sinha ◽  
...  
Keyword(s):  
Protein Kinase ◽  
Myotonic Dystrophy ◽  
Eastern India ◽  
Kinase Gene ◽  
Protein Kinase Gene ◽  
Ctg Expansion ◽  
Molecular Anatomy

Myotonic dystrophy: muscle involvement in relation to disease type and size of expanded CTG-repeat sequence

2005 ◽  
Vol 47 (7) ◽  
pp. 478-485 ◽  
Author(s):  
Anna-Karin Kroksmark ◽  
Anne-Berit Ekström ◽  
Eva Björck ◽  
Már Tulinius
Keyword(s):  
Myotonic Dystrophy ◽  
Repeat Sequence ◽  
Disease Type ◽  
Muscle Involvement ◽  
Ctg Repeat

scholarly journals Identification of Plant-derived Alkaloids with Therapeutic Potential for Myotonic Dystrophy Type I

2016 ◽  
Vol 291 (33) ◽  
pp. 17165-17177 ◽  
Author(s):  
Ruben Herrendorff ◽  
Maria Teresa Faleschini ◽  
Adeline Stiefvater ◽  
Beat Erne ◽  
Tatiana Wiktorowicz ◽  
...  
Keyword(s):  
Small Molecules ◽  
Myotonic Dystrophy ◽  
Therapeutic Potential ◽  
Cell Model ◽  
Type I ◽  
Myotonic Dystrophy Type ◽  
Kinase Gene ◽  
Causal Treatment ◽  
Protein Kinase Gene ◽  
Dystrophia Myotonica Protein Kinase

Myotonic dystrophy type I (DM1) is a disabling neuromuscular disease with no causal treatment available. This disease is caused by expanded CTG trinucleotide repeats in the 3′ UTR of the dystrophia myotonica protein kinase gene. On the RNA level, expanded (CUG)n repeats form hairpin structures that sequester splicing factors such as muscleblind-like 1 (MBNL1). Lack of available MBNL1 leads to misregulated alternative splicing of many target pre-mRNAs, leading to the multisystemic symptoms in DM1. Many studies aiming to identify small molecules that target the (CUG)n-MBNL1 complex focused on synthetic molecules. In an effort to identify new small molecules that liberate sequestered MBNL1 from (CUG)n RNA, we focused specifically on small molecules of natural origin. Natural products remain an important source for drugs and play a significant role in providing novel leads and pharmacophores for medicinal chemistry. In a new DM1 mechanism-based biochemical assay, we screened a collection of isolated natural compounds and a library of over 2100 extracts from plants and fungal strains. HPLC-based activity profiling in combination with spectroscopic methods were used to identify the active principles in the extracts. The bioactivity of the identified compounds was investigated in a human cell model and in a mouse model of DM1. We identified several alkaloids, including the β-carboline harmine and the isoquinoline berberine, that ameliorated certain aspects of the DM1 pathology in these models. Alkaloids as a compound class may have potential for drug discovery in other RNA-mediated diseases.

Instability of the Expanded (CTG)nRepeats in the Myotonin Protein Kinase Gene in Cultured Lymphoblastoid Cell Lines from Patients with Myotonic Dystrophy

Genomics ◽  
1996 ◽  
Vol 36 (1) ◽  
pp. 47-53 ◽  
Author(s):  
Tetsuo Ashizawa ◽  
Darren G. Monckton ◽  
Sukeshi Vaishnav ◽  
Bhavna J. Patel ◽  
Alica Voskova ◽  
...  
Keyword(s):  
Protein Kinase ◽  
Myotonic Dystrophy ◽  
Cell Lines ◽  
Lymphoblastoid Cell Lines ◽  
Kinase Gene ◽  
Protein Kinase Gene

scholarly journals Myotonic dystrophy: muscle involvement in relation to disease type and size of expanded CTG-repeat sequence

2007 ◽  
Vol 47 (7) ◽  
pp. 478-485 ◽  
Author(s):  
Anna-Karin Kroksmark ◽  
Anne-Berit Ekström ◽  
Eva Björck ◽  
Már Tulinius
Keyword(s):  
Myotonic Dystrophy ◽  
Repeat Sequence ◽  
Disease Type ◽  
Muscle Involvement ◽  
Ctg Repeat
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