scholarly journals Duchenne muscular dystrophy: A immunohistochemical profile and deletion pattern in dystrophin gene in North Indian population

2017 ◽  
Vol 8 (6) ◽  
pp. 13-18
Author(s):  
Rachna Agarwal ◽  
Sujata Chaturvedi ◽  
Neelam Chhillar ◽  
Ishita Pant ◽  
Anuradha Sharma
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Point Mutation ◽  
Dystrophin Gene ◽  
Becker Muscular Dystrophy ◽  
Large Deletion ◽  
Mutation Spectrum ◽  
Specific Information ◽  
Complete Work ◽  
Deletion Pattern

Background: Duchenne muscular dystrophy (DMD), one of the most common X linked muscular disorder, affecting 1 in 3500 male births and is caused by mutation in dystrophin gene.  65% of DMD cases are caused by large deletion of dystrophin gene, followed by duplication (5-10%) or point mutation (25-30%). There is wide mutation spectrum of the mutations in dystrophin gene. Hence, population specific information is needed on mutation spectrum and frequency of common mutations occurring in that particular population for appropriate counseling, prenatal diagnosis and for developing genetic therapy in future. Aims and Objectives: To find out the frequency and distribution of deletion in dystrophin gene in DMD patients along with contribution of pathology and genetic testing in diagnosis of DMD and Becker muscular dystrophy (BMD) in North Indian population.Materials and Methods: Dystrophin gene was screened for deletion by multiplex polymerase chain reaction (PCR). Out of 41 patients, 09 patients underwent muscle biopsy, on which immunohistochemistry was performed for dystrophin, sarcoglycan, dysferlin and merosin.Results: Majority of the deletions were located in distal hotspot region (26/39 ~66.66%) which includes the exons 45-55 and 15.38% of deletions were located at the proximal hotspot region (2- 19 exons).Conclusion: In the present study, 34% patients only showed deletion. Hence complete work up of any muscular dystrophy requires immnohistochemical analysis to see the expression of muscle proteins along with multipleplex PCR test to detect any exon deletion, multiplex ligation-dependent probe amplification (MLPA) to detect point mutation and duplication and  western blotting to quantify the dystrophin protein.Asian Journal of Medical Sciences Vol.8(6) 2017 13-18

scholarly journals Deletion pattern in the dystrophin gene in Duchenne muscular dystrophy patients in northeast India

2013 ◽  
Vol 04 (02) ◽  
pp. 227-229 ◽  
Author(s):  
Lakshya J Basumatary ◽  
Marami Das ◽  
Munindra Goswami ◽  
Ashok K Kayal
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Dna Analysis ◽  
Hot Spot ◽  
Dystrophin Gene ◽  
Northeast India ◽  
Deletion Rate ◽  
Study Population ◽  
Deletion Pattern ◽  
Polymerase Chain

ABSTRACTDuchenne muscular dystrophy (DMD) is an X‑linked recessive disorder that affects 1 in 3,500 males and is caused by mutations in the dystrophin gene. In this paper, we have reported DNA analysis of DMD patients by multiplex polymerase chain reaction (PCR) from various states of northeast India. Of the 69 clinically suspected patients of DMD, deletion was detected by multiplex PCR in 49 (71%) patients. Majority of the deletions (42/49, 85.7%) were located at distal hot spot region that encompasses exons 44-55 and 14.3% of the deletions were located at the proximal hot spot region (exons 2-19). In this study population, the deletion rate was 71% and was more frequent in the distal end exon.

scholarly journals Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center

2010 ◽  
Vol 55 (6) ◽  
pp. 379-388 ◽  
Author(s):  
Yasuhiro Takeshima ◽  
Mariko Yagi ◽  
Yo Okizuka ◽  
Hiroyuki Awano ◽  
Zhujun Zhang ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Dystrophin Gene ◽  
Becker Muscular Dystrophy ◽  
Mutation Spectrum ◽  
Referral Center

P4.03 Mutation spectrum of the dystrophin gene in 456 Duchenne/Becker muscular dystrophy cases from one Japanese referral center

2010 ◽  
Vol 20 (9-10) ◽  
pp. 659
Author(s):  
Y. Takeshima ◽  
M. Yagi ◽  
H. Awano ◽  
Y. Yamauchi ◽  
R.G. Malueka ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Dystrophin Gene ◽  
Becker Muscular Dystrophy ◽  
Mutation Spectrum ◽  
Referral Center

Mutation spectrum of the dystrophin gene in 507 Korean Duchenne/Becker muscular dystrophy patients

2015 ◽  
Vol 25 ◽  
pp. S255 ◽  
Author(s):  
H. Ryu ◽  
A. Cho ◽  
M. Seong ◽  
S. Park ◽  
J. Lee ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Dystrophin Gene ◽  
Becker Muscular Dystrophy ◽  
Mutation Spectrum

Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center

2017 ◽  
Vol 55 (5) ◽  
pp. 727-734 ◽  
Author(s):  
Anna Cho ◽  
Moon-Woo Seong ◽  
Byung Chan Lim ◽  
Hwa Jeen Lee ◽  
Jung Hye Byeon ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Dystrophin Gene ◽  
Becker Muscular Dystrophy ◽  
Mutation Spectrum ◽  
Single Center

Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy

2003 ◽  
Vol 118A (3) ◽  
pp. 296-298 ◽  
Author(s):  
Anthonie J. van Essen ◽  
Inge M. Mulder ◽  
Pieter van der Vlies ◽  
Annemarie H. van der Hout ◽  
Charles H.C.M. Buys ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Point Mutation ◽  
Dystrophin Gene ◽  
Germline Mosaicism

scholarly journals Autism Spectrum Disorder and Duchenne Muscular Dystrophy: A Clinical Case on the Potential Role of the Dystrophin in Autism Neurobiology

2021 ◽  
Vol 10 (19) ◽  
pp. 4370
Author(s):  
Marta Simone ◽  
Lucia Margari ◽  
Francesco Pompamea ◽  
Andrea De Giacomo ◽  
Alessandra Gabellone ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Clinical Case ◽  
Potential Role ◽  
Dystrophin Gene ◽  
Large Deletion ◽  
Autism Spectrum ◽  
Spectrum Disorder

A diagnosis of autism spectrum disorder is reported in up to 19% of dystrophinopathies. However, over the last ten years, only a few papers have been published on this topic. Therefore, further studies are required to analyze this association in depth and ultimately to understand the role of the brain dystrophin isoform in the pathogenesis of ASD and other neurodevelopmental disorders. In this paper, we report a clinical case of a patient affected by ASD and Duchenne muscular dystrophy, who carries a large deletion of the dystrophin gene. Then we present a brief overview of the literature about similar cases and about the potential role of the dystrophin protein in the neurobiology of autism spectrum disorder.

scholarly journals Evaluating the potential of novel genetic approaches for the treatment of Duchenne muscular dystrophy

2021 ◽  
Author(s):  
Vratko Himič ◽  
Kay E. Davies
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Structural Integrity ◽  
Viral Vector ◽  
Exon Skipping ◽  
Dystrophin Gene ◽  
Pharmacological Treatments ◽  
Genetic Sequencing ◽  
Reading Frame ◽  
Target Effects

AbstractDuchenne muscular dystrophy (DMD) is an X-linked progressive muscle-wasting disorder that is caused by a lack of functional dystrophin, a cytoplasmic protein necessary for the structural integrity of muscle. As variants in the dystrophin gene lead to a disruption of the reading frame, pharmacological treatments have only limited efficacy; there is currently no effective therapy and consequently, a significant unmet clinical need for DMD. Recently, novel genetic approaches have shown real promise in treating DMD, with advancements in the efficacy and tropism of exon skipping and surrogate gene therapy. CRISPR-Cas9 has the potential to be a ‘one-hit’ curative treatment in the coming decade. The current limitations of gene editing, such as off-target effects and immunogenicity, are in fact partly constraints of the delivery method itself, and thus research focus has shifted to improving the viral vector. In order to halt the loss of ambulation, early diagnosis and treatment will be pivotal. In an era where genetic sequencing is increasingly utilised in the clinic, genetic therapies will play a progressively central role in DMD therapy. This review delineates the relative merits of cutting-edge genetic approaches, as well as the challenges that still need to be overcome before they become clinically viable.

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