Genome- and cell-based strategies in therapy of muscular dystrophies

Saada, Yara Bou; Dib, Carla; Lipinski, Marc; Vassetzky, Yegor S.

doi:10.1134/s000629791607004x

Cited by 5 publications

(3 citation statements)

References 141 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This variable sample included different types of MD with distinct motor involvement evidenced by variable Vignos scores. The MD clinical population also shows high intragroup variability (between patients with the same DM type) and intergroup variability (between patients with distinct DM types; Saada, Dib, Lipinki, & Vassetzky, 2016). MD patients show variable muscle strength because some have proximal to distal while others have distal to proximal progression, depending on MD type.…”

Section: Discussionmentioning

confidence: 99%

Hand Function in Muscular Dystrophies

et al. 2017

View full text Add to dashboard Cite

The aim of this study was to investigate the relationship between Performance of Upper Limb (PUL) and Jebsen-Taylor Test (JTT) to assess and monitor upper limb function progression in patients with muscular dystrophy. Thirty patients diagnosed with Duchenne muscular dystrophy, limb-girdle muscular dystrophy, Becker muscular dystrophy, myotonic dystrophy Type 1, and fascioscapulohumeral dystrophy were submitted to the shoulder, elbow, and wrist domains of PUL, and to JTT subtests. Spearman tests investigated the relationships between PUL and JTT total scores and domains. Correlations were classified as strong ( r ≥ 0.70), moderate (0.40 ≤ r < 0.70), or weak ( r ≤ 0.40). There were strong correlations between the PUL and JTT total scores ( r = -0.706). Although JTT measures time and PUL provides kinesiologic scores, these measures were related. Therefore, muscle synergies, which control the compensatory movements and motor functions involving mainly shoulder, elbow, wrist, and finger movements, are related to timed performance in patients with muscular dystrophies.

show abstract

Section: Discussionmentioning

confidence: 99%

Hand Function in Muscular Dystrophies

et al. 2017

View full text Add to dashboard Cite

show abstract

“…It is important to recognize that CRISPR gene editing also causes unintended mutations. The precision medicine approaches to treating muscular dystrophy are illustrated in Figure …”

Section: Muscular Dystrophymentioning

confidence: 99%

Myopenia and precision (P4) medicine

Morley

Anker²

2017

J cachexia sarcopenia muscle

View full text Add to dashboard Cite

Precision (P4) medicine represents a new medical paradigm that focuses on Personalized, Predictive, Preventive and Participatory approaches. The P4 paradigm is particularly appropriate for moving the care of persons with myopenia forward. Muscular dystrophies are clearly a set of genetically different diseases where genomics are the basis of diagnosis, and genetic modulation via DNA, oligonucleotides and clustered regularly interspaced short palendronic repeats hold great potential for a cure. The utility of personalized genomics for sarcopenia coupled with utilizing a predictive approach for the diagnosis with early preventive strategies is a key to improving sarcopenic outcomes. The importance of understanding different levels of patient enthusiasm and different responses to exercise should guide the participatory phase of sarcopenic treatment. In the case of cachexia, understanding the effects of the different therapies now available through the P4 approach on muscle wasting is a key to management strategies.

show abstract

“…Those gene-editing tools include meganucleases, transcription activator-like (TAL) effector nucleases (TALENs), 1 and the clustered regularly interspaced short palindromic repeat (CRISPR)/Cas9 system 2 (reviewed by Saada et al 3…”

Section: Introductionmentioning

confidence: 99%

A One-Step PCR-Based Assay to Evaluate the Efficiency and Precision of Genomic DNA-Editing Tools

Germini

Saada

Tsfasman

et al. 2017

Molecular Therapy - Methods & Clinical Development

View full text Add to dashboard Cite

Despite rapid progress, many problems and limitations persist and limit the applicability of gene-editing techniques. Making use of meganucleases, TALENs, or CRISPR/Cas9-based tools requires an initial step of pre-screening to determine the efficiency and specificity of the designed tools. This step remains time consuming and material consuming. Here we propose a simple, cheap, reliable, time-saving, and highly sensitive method to evaluate a given gene-editing tool based on its capacity to induce chromosomal translocations when combined with a reference engineered nuclease. In the proposed technique, designated engineered nuclease-induced translocations (ENIT), a plasmid coding for the DNA-editing tool to be tested is co-transfected into carefully chosen target cells along with that for an engineered nuclease of known specificity and efficiency. If the new enzyme efficiently cuts within the desired region, then specific chromosomal translocations will be generated between the two targeted genomic regions and be readily detectable by a one-step PCR or qPCR assay. The PCR product thus obtained can be directly sequenced, thereby determining the exact position of the double-strand breaks induced by the gene-editing tools. As a proof of concept, ENIT was successfully tested in different cell types and with different meganucleases, TALENs, and CRISPR/Cas9-based editing tools.

show abstract

Genome- and cell-based strategies in therapy of muscular dystrophies

Cited by 5 publications

References 141 publications

Hand Function in Muscular Dystrophies

Hand Function in Muscular Dystrophies

Myopenia and precision (P4) medicine

A One-Step PCR-Based Assay to Evaluate the Efficiency and Precision of Genomic DNA-Editing Tools

Contact Info

Product

Resources

About