153 results about "Spinal muscular atrophy" patented technology

Disclosed herein are compounds, compositions and methods for modulating splicing of SMN2 mRNA in a subject. Also provided are uses of disclosed compounds and compositions in the manufacture of a medicament for treatment of diseases and disorders, including spinal muscular atrophy.

The present invention provides nucleic acid constructs, methods for identifying and validating compounds that increase the inclusion of exon 7 of SMN2 into mRNA transcribed from the SMN2 gene, compounds and pharmaceutical compositions that increase levels of SMN protein produced from the SMN2 gene, and methods for use thereof in treating of SMA.

Disclosed herein are compounds, compositions and methods for modulating splicing of SMN2 mRNA in a cell, tissue or animal. Also provided are uses of disclosed compounds and compositions in the manufacture of a medicament for treatment of diseases and disorders, including spinal muscular atrophy.

Disclosed are methods for generating a neuron expressing Hoxc8 transcription factor or a caudal motor neuron comprising culturing an embryonic stem cell in a composition which is essentially free of retinoids and comprises an isotonic salt solution, so as to generate the neuron which expresses Hoxc8 transcription factor or the caudal motor neuron. Disclosed are also methods for generating a caudal brachial motor neuron, a thoracic motor neuron, or a lumbar motor neuron from an embryonic stem cell in a composition essentially free of retinoids and comprising ADFNK medium, an amount of FGF-2, or Gdf11 respectively. Disclosed are also methods of transplanting a motor neuron into a subject comprising generating the motor neuron and transplanting the motor neuron into the subject. Disclosed is also a population of motor neuron cells enriched for motor neuron cells expressing Foxp1 and expressing a gene associated with Spinal Muscular Atrophy (SMA) or Amyotrophic Lateral Sclerosis (ALS).

Disclosed herein are compounds, compositions and methods for modulating splicing of SMN2 mRNA in a cell, tissue or animal. Also provided are uses of disclosed compounds and compositions in the manufacture of a medicament for treatment of diseases and disorders, including spinal muscular atrophy.

The present invention relates to 2-hydroxy-alkylamino-benzoic acid derivatives and to a combination of cell necrosis inhibitor and lithium, process for the preparation of the derivatives or the combination, pharmaceutical formulation containing the derivatives or the combination, and use of the derivatives or the combination by either concomitant or sequential administration for improvement of treatment of neuronal death or neurological dysfunction. The derivatives and the combination of the present invention are useful for treating neurological diseases, such as amyotrophic lateral sclerosis (ALS, Lou Gehrig's disease), spinal muscular atrophy, Alzheimer's disease, Parkinson's disease, Huntington's disease, stroke, traumatic brain injury or spinal cord injury; and for treating ocular diseases such as glaucoma, diabetic retinopathy or macular degeneration.

The invention discloses a primer and a probe for screening spinal muscular atrophy (SMA) genes and a using method of the primer and probe, belonging to the technical field of biology. The invention discloses eight combinations of the primer and probe for screening survival motor neuron genes 1 (SMN1), and the primer and probe can be effectively applied to screening the SMN1. Meanwhile, the invention also discloses sixteen groups of combinations of the primer and probe for screening survival motor neuron genes 2 (SMN2), as well as application in fetal SMA gene screening by utilizing the primer and probe for screening the SMN1 and the primer and probe for screening the SMN2. According to the primer and probe provided by the invention, the SMA genotypes of adults and fetuses can be detected at high efficiency.

The invention relates to the field of gene detection, and particularly relates to a primer, a probe and a kit for fluorescent quantitative detection on genes of spinal muscular atrophy (SMA). The kit comprises the primer and the probe for fluorescent quantitative detection on genes of SMA, wherein the primer includes 9 pairs of primers; the probe includes 15 probes. According to the primer, the probe and the kit for fluorescent quantitative detection on genes of SMA, a fluorescent quantitative PCR technology is utilized, common mutation site detection which is not found in existing patent technologies is added, so that, 16 types of SMA patients caused by SMN gene deletion, transformation and site mutation can be specifically detected in one time, and classification of SMA patients can be realized.

The invention provides a spinal muscular atrophy-related gene mutation detection method which comprises the following steps: extracting genome DNA (deoxyribonucleic acid) of a detection object; performing fluorescent quantitative PCR (polymerase chain reaction) on the genome DNA by adopting a combination of two PCR primer pairs and two Taqman MGB fluorescent probes respectively, wherein the PCR primer pairs are nucleotide sequences shown in SEQ ID NO:4 and SEQ ID NO:5 as well as SEQ ID NO:7 and SEQ ID NO:8 respectively, and nucleotide sequences of the Taqman MGB fluorescent probes are nucleotide sequences shown in SEQ ID NO:6 and SEQ ID NO:9 respectively; analyzing whether two loci of a spinal muscular atrophy-related gene in the genome DNA mutate according to a real-time amplification curve formed by fluorescent signals collected from the fluorescent quantitative PCR. The invention further relates to a related detection probe composition and a detection kit, as well as a related application. According to the method, the design is skilful, the closed pipe detection is adopted, the sample pollution can be effectively avoided, the detection is quick, accurate, easy and convenient, detection results can serve as references for diagnosis, treatment and drug use of doctors, and large-scale popularization and application are facilitated.

This invention defines novel research and clinical laboratory methodology and compositions related thereto appropriate for use in (a) determining the presence of a neurodegenerative disease selected from the group limited solely to Charcot-Marie-Tooth disease, familial Alzheimer's disease, familial Parkinson's disease, Huntington's disease, spinal muscular atrophy, Friedreich'a ataxia, giant axon neuropathy, juvenile ceroid-lipofuscinosis, familial motor neuron diseases, juvenile diabetic polyneuropathy and Down's syndrome, (b) monitoring the ongoing status of the physiological expression of said disease and (c) screening candidate therapeutic drug agents for possible effectiveness. The invention is based on the new and novel observation that the presence of a neurodegenerative disease can be characterized in part by the expression in cultured fibroblasts obtained from the patient of one or more proteins which are not the product of a defective disease-inducing gene, but which are stress proteins, one or more other proteins modified by conditions of oxidative stress or one or more other disease-related proteins. The invention depends on living cell material, namely fibroblasts, which are readily and, if necessary, repeatedly available from a patient. When adapted as a method and composition useful for the screening candidate therapeutic drug agents for possible effectiveness, this technology offers advantages in terms of (a) providing research opportunities which, in some cases, never existed before, (b) cost effectiveness when compared to alternative technologies, (c) ability to be used readily on a large scale, (d) ability to generate meaningful data in a comparatively short period of time, and (e) providing an early stage opportunity to obtain information based on direct interaction of a candidate drug and a living tissue disease model. Various aspects of diagnostic methods and compositions are also disclosed.

The invention provides a method for determining residual organic solvents in the freeze-dried injection of a traditional Chinese medicine composition. The raw materials of the freeze-dried injection of the Chinese medicine include ginseng and epimedium, which are clinically used for motor neuron diseases (amyotrophic lateral sclerosis, amyotrophic lateral sclerosis, spinal muscular atrophy, progressive bulbar palsy, primary lateral sclerosis), progressive muscular dystrophy, congenital myopathy and other diseases caused by muscular atrophy and myasthenia gravis, the method of the present invention uses the top The residual amount of organic solvent can be determined by air chromatography, which can be used for the quality control of the product.