112 results about "Amyotrophy" patented technology

A method of enhancing the regeneration of injured nerves has the step of administering an effective exposure of pressure pulses or acoustic shock waves in a pulse or wave pattern to the zone of injury of the nerve during the regeneration process. The inventive method may include enhancing the stimulation of neuronal cell growth or regeneration by administering an effective exposure of pressure pulses or acoustic shock waves in a pulse or wave pattern to stimulate neuronal cell growth or regeneration, wherein the administering of the treatment is applied to a patient who has a pathological condition where neuronal repair can be facilitated including peripheral nerve damage caused by injury or disease such as diabetes, brain damage associated with stroke, and for the treatment of neurological disorders related to neurodegeneration, including Parkinson's disease, Alzheimer's disease and amyotrophic lateral, sclerosis multiple sclerosis and disseminated sclerosis. The treatment is ideally suited for neural regeneration after a degenerative condition due to any neurological infections or any other pathological condition.

Described herein are methods for the identification or validation of compounds capable of causing ribosomal frameshifting and the use of said compounds to produce a stabilized SMNΔEx7 protein and treat Spinal Muscular Atrophy.

The present invention relates to pharmaceutical agents which are agents for the prophylaxis or treatment of hypogonadism, male climacteric disorder, frailty, cachexia or osteoporosis; the pharmaceutical agents frailty suppressants, muscle strength enhancers, muscle increasing agents, cachexia suppressants, body weight decrease suppressants, agents for the prophylaxis or treatment of prostate hypertrophy, amyotrophy or muscle loss caused by a disease or an agent for reducing the prostate weight.The present invention also relates to methods for the prophylaxis or treatment of hypogonadism, male climacteric disorder, frailty, cachexia or osteoporosis in a mammal, which comprises administering an effective amount of the pharmaceutical agents of the present invention or a prodrug thereof; use of the pharmaceutical agents of the present invention or a prodrug thereof for the production of an agent for the prophylaxis or treatment of hypogonadism, male climacteric disorder, frailty, cachexia or osteoporosis; and the like.

The invention relates to the use of an antisense compound for inducing exon inclusion as a treatment for Spinal Muscle Atrophy (SMA). More particularly it relates to inducing inclusion of exon 7 to restore levels of Survival Motor Neuron (SMN) protein encoded by the Survival Motor Neuron (SMN) gene.

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 content of various components in a Chinese medicinal composition freeze-dried injection. The Chinese medicinal freeze-dried injection comprises ginseng and epimedium herb which serve as raw materials and is clinically used for treating amyotrophy and myasthenia gravis which are caused by diseases such as motoneuron diseases (amyotrophic lateral sclerosis, progressive spinal muscular atrophy, progressive bulbar palsy and primary lateral sclerosis), progressive muscular dystrophy, congenital myopathy and the like. In the method, 15 active compounds in the Chinese medicinal freeze-dried injection are qualitatively and quantitatively analyzed simultaneously by a tandem mass spectrometry of a high performance liquid chromatography, and the method can be used for quality control of a product.

The invention discloses a kit for screening a spinal muscular atrophy (SMA) virulence gene carrier and application of the kit, and belongs to the field of gene detection. The copy number of exon7 of a main virulence gene SMN1 of spinal muscular atrophy is quantitatively detected by a fluorescent quantitation PCR method based on a Taqman probe, so that distinguishing between the spinal muscular atrophy virulence gene carrier and a non carrier is realized. The kit can be quickly and conveniently applied to screening the spinal muscular atrophy virulence gene carriers from a large scale of people, is particularly suitable for screening on antenatal, premarital and pre-pregnant people and gene diagnosis on patients and is high in repetitiveness and accurate in result.

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.

Disclosed herein are compositions and methods for treatment of spinal muscular atrophy (SMA). In certain embodiments, compounds are provided that increase full-length survival of motor neuron (SMN) protein production by an SMN2 gene.

The invention discloses a time-of-flight mass spectrometry nucleic acid analysis method for detecting human spinal muscular atrophy gene mutation. A primer combination comprising an amplification primer and a mass spectrometry extension probe primer is utilized. According to the method, the copy numbers of sequences related to SMN1, SMN2, NAIP, H4F5 and GTF2H2 genes are quantitatively detected, and whether deletion, deletion number and multiple copies exist or not is analyzed, so that the clinical phenotype severity can be directly deduced; the method has good sensitivity, specificity, stability and accuracy, and effectively solves the technical bottleneck of false negative, false positive and the like; the operation is simple, the cost is relatively low, and the result is stable and reliable; the method is high in flux and low in cost, has general representativeness and universality, is easy to realize automatic and large-scale detection, and is suitable for large-scale population screening; genetic typing detection can be carried out on part of common SMN1 upper point mutations; and the requirements of large-scale population screening, prenatal diagnosis and conventional molecular diagnosis in current SMA prevention and treatment are met.

The invention discloses a probe for detecting common genetic diseases, a gene chip, a preparation method and application. The preparation method comprises the following steps of according to genes ofthalassemia, phenylketonuria, spinal muscular atrophy, hepatolenticular degeneration, pseudomuscular hypertrophy, glycogen storage disease Type II, methylmalonic academia, methylmalonic aciduria-accompanied type cysteine peptiduria Type cb1C, and oculocutaneous albinism Type 1, constructing a target capturing area, and designing a capturing probe, wherein the target capturing area comprises all globin genes, important regulating areas, deleted mutation breakpoints and SNP (single nucleotide polymorphism) sites of alpha and beta genes, and SMN1, PAH, ATP7B, DMD, GAA, MUT, MMACHC and TYR genes.The probe for the gene mutation of common genetic diseases can be designed according to the related genes of nine types of genetic diseases, and the prepared probe can be used for detecting the nine types of genetic diseases, and be suitable for large-scale population diagnosis and screening.

The invention relates to an application of salidroside in preventing and treating amyotrophy diseases. Experiments prove that salidroside can inhibit the expression of amyotrophy peculiar factor Atrogin-1, myotube atrophy and reduction of skeletal muscle fiber cross section area during the amyotrophy generating process, and has the functions of increasing the content of slow-twitch fiber protein in skeletal muscle and inhibiting fast-twitch fiber protein expression, and thus the amyotropy is prevented and resisted.

The invention relates to a spinal muscular atrophy detection kit. The kit comprises a reagent which is used for quantitatively detecting the genotype of the 7th exon of an SMN1 gene by a droplet typedigital PCR method, wherein the reagent is a reagent for quantitatively detecting the copy number of the 7th exon of an SMN1 gene based on the droplet type digital PCR method. The kit has high exon detection accuracy, good repeatability, no false positive or false negative, high sensitivity and short detection time.

Provided herein are compounds, compositions thereof and uses therewith for treating spinal muscular atrophy. In a specific embodiment, provided herein are compounds of a form that may be used to modulate the inclusion of exon 7 of SMN2 into mRNA that is transcribed from the SMN2 gene. In another specific embodiment, provided herein are compounds of a form that may be used to modulate the inclusion of exon 7 of SMN1 into mRNA that is transcribed from the SMN1 gene. In yet another embodiment, provided herein are compounds of a form that may be used to modulate the inclusion of exon 7 of SMN1 and SMN2 into mRNA that is transcribed from the SMN1 and SMN2 genes, respectively.

The present invention relates to compounds useful as promoters of the SMN2 gene. The invention also provides pharmaceutically acceptable compositions comprising said compounds and methods of using the compositions in the treatment of Spinal Muscular Atrophy.

The invention relates to a method for detecting a genetic disease gene and particularly discloses a method for detecting a spinal muscular atrophy virulence gene. The method comprises the following steps: 1, performing enrichment processing on SMN1 and SMN2; 2, preparing a nanopore sequencing library for sequencing; 3, sequencing by a sequenator; and 4, performing clinical report evaluation on the obtained sequence file. The method is convenient to use, low in cost and can effectively and accurately detect the copy number of the spinal muscular atrophy virulence gene, the small segment insertion and deletion, the point mutation, the noncoding region mutation and even the gene translocation, and brings help and breakthrough for the clinical diagnosis and scientific research on the spinal muscular atrophy.

Disclosed herein are compositions and methods for treatment of spinal muscular atrophy (SMA). In certain embodiments, compounds are provided that increase full-length survival of motor neuron (SMN) protein production by an SMN2 gene.

2,4-Diaminoquinazolines of formula (I) are provided herein and are useful for treating spinal muscular atrophy (SMA).

The invention relates to a traditional Chinese medicine for treating myasthenia gravis and amyotrophy. The problem of using medicine for treating myasthenia gravis and amyotrophy is efficiently solved. According to the technical scheme, a method comprises the following steps: respectively crushing the following materials into powder: 13-17g Chinese angelica, 13-17g rhizoma homalomenae, 13-17g pawpaw, 13-17g spatholobus stems, 13-17g sargentgloryvine stems, 9-12g cortex eucommiae and 9-12g cassia twigs; screening by using a 300 mesh sieve, uniformly mixing the powder into fine medicine powder, and standing by; mixing 13-17g rehmannia glutinosa, 13-17g fructus corni, 13-17g medlar, 13-17g fructus psoraleae, 13-17 mistletoe and 13-17g achyranthes bidentata, adding water and decocting, and concentrating decocted liquid into extractum; mixing the fine medicine powder with the extractum and preparing into a medicine lump; pelletizing and drying; and coating and packaging. The traditional Chinese medicine is used for efficiently treating the myasthenia gravis and amyotrophy and has the functions of strengthening the muscle, forming the muscle, strengthening tendon and bones, nourishing liver and kidney, promoting blood circulation and removing blood stasis, promoting the immunity of organism, nourishing and repairing nerve and muscle cells, increasing the endurance of the cells and enhancing the muscle vigor. The traditional Chinese medicine is excellent in curative effect, is free from toxic side effects, is conveniently and simply taken and is safe and reliable.

The invention discloses primers for detecting homozygous deletion mutation of spinal muscular atrophy related virulence genes SMN1 and SMN2. The primers comprise primers c.835-44, c.840, INS7+100, INS7+215 and *239 sites which amplify SMN1 and SMN2. By adopting a Sanger sequencing technology, the method can be used for detecting mutation conditions of c.835-44, c.840, INS7+100, INS7+215 and *239 sites in a body of the spinal muscular atrophy patient. The detection result finished by the invention is accurate and has important reference meaning in early screening of spinal muscular atrophy.

The invention relates to a traditional Chinese medicine composition for treating amyotrophy, osteocomma deformation and gout. The traditional Chinese medicine composition comprises the following raw material medicines in parts by weight: 4-6 parts of semen plantaginis, 4-8 parts of lysimachia christinae hance, 2-6 parts of Jingoujuan, 2-6 parts of astragalus and 2-4 parts of liquorice. The traditional Chinese medicine composition contains the semen plantaginis, the lysimachia christinae hance, the Jingoujuan, the astragalus and the liquorice which are reasonably compatible, and the effects of nourishing yin and tonifying kidney, strengthening the tendons and bones, promoting diuresis and reinforcing kidney, expelling wind and removing obstruction in the meridians, nourishing heart and tonifying qi, as well as moistening and nourishing the skin are taken as the principles of treatment, so that withered and weak muscles are restored to different degrees, the amyotrophy and osteocomma deformation are avoided, the symptoms of uarthritis are improved, and the curative effect is obvious.

The invention provides a method for interfering muscle specific E3 ubiquitin protein ligase gene expression, in particular to interference RNAs of an Artogin-1 gene and a MuRF1 gene and DNA sequences thereof, a carrier containing the same and the interference RNAs transcribed by the carrier, and application of the interference RNA sequences, the carrier containing the same and the interference RNAs transcribed by the carrier to preparing a medicine for preventing and treating amyotrophy diseases. In cellular levels and experimental animals, the interference RNA sequences of the invention respectively lower Atrogin-1 gene expression and MuRF1 gene expression by about 60% and 30% compared with contrast, and muscular cell differentiation levels are respectively improved by about 70% and 30% compared with contrast. The interference RNAs show obvious treating effect on amyotrophy of experimental animals, thus effectively improving muscle quality in the event of an outbreak.

Compounds of Formula (I) or (II) useful for the treatment of spinal muscular atrophy or other uses, as well as methods of using such compounds to increase SMN expression, increase EAAT2 expression, or increase the expression of a nucleic acid that encodes a translational stop codon introduced by mutation or frameshift.

The invention provides a probe composition and a kit for screening genetic disease pathogenic gene carriers and a preparation method of the probe composition and the kit. The probe composition specifically captures pathogenic genes of genetic diseases, and the genetic diseases comprise alpha-thalassemia, beta-thalassemia, spinal muscular atrophy, hepatolenticular degeneration and methylmalonic acid cblC type. The invention provides a probe combination which is accurate, reliable, simple and economical, can be used for screening carriers of various genetic disease pathogenic genes at the same time, and is convenient for popularization and clinical application of screening of carriers of common genetic diseases.

Provided herein are compounds, compositions thereof and uses therewith for treating spinal muscular atrophy.