News Column

Patent Application Titled "Skeletal Muscle-Specific Enhancer" Published Online

February 20, 2014

By a News Reporter-Staff News Editor at Gene Therapy Weekly -- According to news reporting originating from Washington, D.C., by NewsRx journalists, a patent application by the inventors Relaix, Frederic (Paris, FR); Bismuth, Keren (Paris, FR), filed on April 5, 2012, was made available online on February 6, 2014 (see also Universite Pierre Et Marie Curie (paris 6)).

The assignee for this patent application is Universite Pierre Et Marie Curie (paris 6).

Reporters obtained the following quote from the background information supplied by the inventors: "Gene therapy is the intracellular delivery of exogenous genetic material that corrects an existing defect or provides a new beneficial function to the cells. The muscle is an important target tissue for gene therapy because of its ready accessibility for direct injection, a relatively easy and minimally invasive method. Additionally, the muscle permits greater expression persistence compared to tissues with a higher cellular turnover rate. Skeletal muscle, for example, is being explored as a target tissue for gene therapy in a variety of therapeutic applications. There are a large number of known diseases caused by defects in gene products that could benefit from production of a protein secreted by the muscle. Familial hypercholesterolemia, hemophilia, Gaucher's and Fabry diseases, and type II diabetes are just a few examples. Many such diseases may be amenable to gene therapy. Muscle based diseases may especially benefit from gene therapy that would specifically target the skeletal muscle.

"Muscle based diseases are manifested in a multitude of fashions, from hereditary, to acquired disorders. The classic example is muscular dystrophy, of which there are several major types, which can appear from infancy to adulthood, and which affect over 300,000 European citizens. Acquired muscular disorders can arise from infections, problems of auto-immunity, alcoholism, metabolic disorders or traumatic events.

"Various expression vectors have been developed to deliver exogenous genetic material into various tissues and organs, and muscle tissue, in particular. Generally, each expression system possesses certain disadvantages and obtaining desired levels of expression in vivo in a sustainable manner can be a challenge. Various gene delivery vectors, such as adeno-associated virus (AAV), have been designed to achieve skeletal muscle gene transfer for the treatment of muscular dystrophies for instance. However, the use of ubiquitous viral promoters represents a major safety issue that could limit their use. By using strategies that avoid gene expression in specific cell types such as antigen presenting cells, it may be possible to abrogate unwanted immune responses against a desired gene.

"There is thus a great need for efficient transcriptional regulatory systems that can direct high level of therapeutic genes in a cell type-specific manner. Such systems would be extremely useful in various gene therapy approaches, because most gene therapy procedures to date have used viral or other nonregulated promoters that have resulted in nonspecific expression in most cell types, even those in which expression was not necessarily desired."

In addition to obtaining background information on this patent application, NewsRx editors also obtained the inventors' summary information for this patent application: "The present invention relates to the use of a compact and highly specific enhancer for gene therapy. This construct is useful in gene therapy approaches to target and enhance gene expression in a tissue specific manner.

"More particularly inventors have identified a novel skeletal muscle-specific p57 regulatory element. Beyond the regulation of p57, this element can be taken out of its context and drive and enhance the specific skeletal muscle expression of other genes or cassettes.

"More particularly the invention provides an isolated transcriptional Regulatory Element nucleic acid that consists of, or comprises (i) sequence SEQ ID NO:1, or (ii) a homologous sequence defined as showing at least 40% identity with SEQ ID NO:1 while retaining its biological activity as a transcriptional Regulatory Element that enhances protein expression in skeletal muscle specifically.

"The invention further provides a vector, such as a virus or a plasmid, that comprises the Regulatory Element as defined herein, and a nucleic acid sequence of interest under the control of a promoter.

"Another subject of the invention is a pharmaceutical composition comprising said vector in association with a pharmaceutically acceptable carrier.

"The vector or pharmaceutical composition may be particularly useful for in vivo delivery to muscle.

"Generally speaking, the vector or pharmaceutical composition may be for treating any disease that may benefit for gene therapy in the muscle, especially a musculoskeletal disease.


"FIG. 1 shows in vivo expression of p57MRE-TKnLacZ."

For more information, see this patent application: Relaix, Frederic; Bismuth, Keren. Skeletal Muscle-Specific Enhancer. Filed April 5, 2012 and posted February 6, 2014. Patent URL:

Keywords for this news article include: Biotechnology, Genetics, Gene Therapy, Bioengineering, Universite Pierre Et Marie Curie (paris 6).

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Source: Gene Therapy Weekly

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