32 results about "Marie disease" patented technology

The present invention relates to compositions and methods for the treatment of the Charcot-Marie-Tooth disease and related disorders.

A method for treating demyelinating diseases in a patient in need thereof by treatment with an effective amount of a PPAR delta agonist is disclosed. Demyelinating diseases that may be effectively treated by this method include but are not limited to multiple sclerosis, Charcot-Marie-Tooth disease, Pelizaeus-Merzbacher disease, encephalomyelitis, neuromyelitis optica, adrenoleukodystrophy, Guillian-Barre syndrome and disorders in which myelin forming glial cells are damaged including spinal cord injuries, neuropathies and nerve injury.

The present invention relates to methods for treating Charcot-Marie-Tooth Disease (CMT) with apilimod and related compositions and methods.

The instant disclosure describes an electrophoretic procedure capable of resolving and isolating ultra high molecular weight (MW) protein aggregates from nerve tissue. The procedure is based on the use of composite agarose-polyacrylamide gel electrophoresis (CAPAGE) and resolves proteins and protein aggregates over the range of from approximately 225 kDa to approximately 30,000 kDa. Triton X-100 precipitation is used to obtain a cytoskeleton protein fraction that is subsequently resuspended and subjected to gel electrophoresis. This method demonstrates that a protein aggregate of approximately 30,000 kDa is characteristic of normal murine spinal cord tissue and that the amount of said protein aggregate is increased in spinal cord homogenate obtained from transgenic mice bearing copies of a mutant human gene characteristic of familial amyotrophic lateral sclerosis. This method for separating nerve tissue ultra high MW cytoskeleton protein aggregates can prove useful in a variety of future biophysical and pharmacological studies related to the etiologies of Charcot-Marie-Tooth disease, Alzheimer's disease, Parkinson's disease, diseases based on expansions in tandem DNA repeats, spinal muscular atrophy, Friedreich's ataxia, giant axon neuropathy, juvenile ceroid-lipofuscinosis, amyotrophic lateral sclerosis, diabetic polyneuropathy and Down's syndrome.

The present invention relates to a method for the screening of a therapeutic agent for Charcot-Marie-Tooth disease (CMT) using induced pluripotent stem cells and motor neurons differentiated therefrom. Particularly, the present inventors prepared induced pluripotent stem cells from the human fibroblasts originated from CMT patient. When the motor neurons differentiated from the said induced pluripotent stem cells are used for the screening of a therapeutic agent for Charcot-Marie-Tooth disease, the pharmaceutical effect of the therapeutic agent candidates can be easily evaluated during the screening. In addition, by the method to prepare the induced pluripotent stem cells, autologous motor neurons which are usable for the screening of a patient-specific therapeutic agent and the patient-specific treatment can be prepared.

Methods are described for screening a subject for risk of Charcot-Marie-Tooth Disease Type 2A or for diagnosing Charcot-Marie-Tooth disease or a predisposition for developing Charcot-Marie-Tooth disease in a subject, by detecting the presence or absence of a mutation in the mitofusin gene in a biological sample collected from the subject. Methods are also described for detecting the presence of a genetic polymorphism associated with Charcot-Marie-Tooth Disease Type 2A in a sample of patient nucleic acid, by amplifying a mitofusin gene sequence in the patient nucleic acid to produce an amplification product; and identifying the presence of a Charcot-Marie-Tooth Disease Type 2A associated polymorphism in the amplification product.

The invention discloses a detection kit for charcot marie tooth disease related PMP22 gene copy number variation. The detection kit comprises a 10*PCR buffer solution, a 4*GC solution, a PCR primer mixed solution, TaqDNA polymerase, a probe primer mixed solution, a DNA diluent, a 10*Taq connecting buffer solution, Taq ligase, 20m MEDTA, dNTP (2.5mM) and MgCl2 (25mM). The kit and the system for detecting PMP22 gene copy number variation on the basis of a CNVplex-high flux connecting probe amplification technology (HLPA) disclosed by the invention are mainly used for detecting the charcot marietooth disease caused by the PMP22 gene deletion or repeated mutation so as to acquire the correct copy number of each target locus of the PMP22 gene. The detection kit has the advantages of quick detection, high accuracy, high repeatability, high resolution ratio, and the like.