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Molecular mechanisms in the development of scoliosis in limb-girdle muscular dystrophies

19th national competition for scientific and technical research

Rare diseases

Senior Researcher : Juan Viña Ribes

Research Centre or Institution : Universidad de Valencia.

Abstract

Limb girdle muscular dystrophy (LGMD) is a genetically and clinically heterogeneous group of rare muscular dystrophies, caused by autosomal dominant or recessive gene mutations. Although each of LGMDs disorders presents a specific muscle gene deregulated, that leads to the onset and progression of disease, all of them share common clinical features. Our main goal was to elucidate some of these common factors in LGMDs and the molecular mechanisms underlying the disease. During this third year of research:

1. The study for miRnome obtention was completed. The sample cohort was extended to a higher number of patients and controls to validate previously obtained data. Four miRs were specifically associated to LGMD versus other neuromuscular diseases such as Duchenne or fascioscapulohumeral muscular dystrophy. In addition, two of them were found to correlate with both, muscular injury measured by CK levels and vitamin D3 content. This signature of differentially expressed miRNAs could be a potential biomarker for diagnosis, prognosis, or disease stratification of LGMD patients.

2. The exome to identify new mutations in LGMD patients was obtained. The exomes of 7 patients diagnosed as LGMD were sequenced and mutations were found in the TTN, TNPO3, CAPN3 or SGCA genes that would directly explain the appearance of LGMD in 6 out of 7 patients analyzed. In addition, in the patient for whom a disease-causing mutation was not identified, 2 heterozygous mutations were found in 2 genes associated with different types of recessive LGMDs (TTN and DAG1) that could cause the disease. A genetic familiar study is being carried on in two of these patients to determine the mutations that could be responsible for the phenotype observed.

3. In vitro studies to determine the role of specific miRs identified in LGMD patients are currently in progress in C2C12 cells during the different steps of myoblast differentiation.

 

Scientific Production
 
Magazine Articles 1
Communications at national conferences 3
Communications at international conferences 1

 

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