Myotonic Dystrophies: State of the Art of New Therapeutic Developments for the CNS
نویسندگان
چکیده
Myotonic dystrophies are multisystemic diseases characterized not only by muscle and heart dysfunction but also by CNS alteration. They are now recognized as brain diseases affecting newborns and children for myotonic dystrophy type 1 and adults for both myotonic dystrophy type 1 and type 2. In the past two decades, much progress has been made in understanding the mechanisms underlying the DM symptoms allowing development of new molecular therapeutic tools with the ultimate aim of curing the disease. This review describes the state of the art for the characterization of CNS related symptoms, the development of molecular strategies to target the CNS as well as the available tools for screening and testing new possible treatments.
منابع مشابه
Recent Advances in Hydraulic Fracturing for Enhanced Well Productivity: State of the Art Report
Hydraulic fracturing of horizontal wells is considered as the main reason for the phenomenal increase in production of oil and gas from marginal and unconventional reservoirs in North America. The process evolution started more than a decade ago and has resulted in ultra-low permeability reservoirs producing at close to the same rates as some of the very prolific reservoirs in the Middle East,...
متن کاملAn overview of therapeutic approaches to brain tumor stem cells
Primary and secondary malignant central nervous system (CNS) tumors are devastating invasive tumors able to give rise to many kinds of differentiated tumor cells. Glioblastoma multiform (GBM), is the most malignant brain tumor, in which its growth and persistence depend on cancer stem cells with enhanced DNA damage repair program that also induces recurrence and resists current chemo- and radi...
متن کاملMyotonic disorders.
Myotonia reflects a state of muscle fiber hyperexcitability. Impaired transmembrane conductance of either chloride or sodium ions results in myotonia. Myotonic disorders include the myotonic dystrophies and nondystrophic myotonias. Mutations in the genes encoding chloride (ClC-1) or sodium (SCN4A) channels expressed exclusively in skeletal muscle cause nondystrophic myotonias. Genetic defects i...
متن کاملMyotonic dystrophies.
Myotonic dystrophies or dystrophia myotonica (DM) is a clinical syndrome that includes myotonic dystrophy type 1 (DM1), myotonic dystrophy type 2 (DM2), myotonic dystrophy type 3 (DM3), and so forth. The terminology was recommended by the new nomenclature for myotonic dystrophies of an International Panel for Consensus. Previous studies have shown that DM1 is caused by the expansion of a cytosi...
متن کاملState of the art of stimuli-responsive liposomes for cancer therapy
Specific delivery of therapeutic agents to solid tumors and their bioavailability at the target site are the most clinically important and challenging goals in cancer therapy. Liposomes are promising nanocarriers and have been well investigated for cancer therapy. In spite of preferred accumulation in tumors via the enhanced permeability and retention (EPR) effect, inefficient drug release at t...
متن کامل