14 results about "Mitochondrial disease" patented technology

The present invention belongs to the field of biomedical technology and discloses an immortalized cell line of human renal chromophobe carcinoma, a culture method and an application thereof. The immortalized cell line of human renal chromophobe carcinoma of the present invention is named human renal chromophobe carcinoma cell line Loya-710 (Homo sapiens), and its Latin name is Chromophobe renal cell carcinoma:Loya‑ 710 , deposited with CCTCC NO: C2025123. The human chromophobe renal cell carcinoma cell line Loya-710, as an in vitro model, grows rapidly in tissue culture and retains the mitochondrial mutations, vesicle structure, and classic immunohistochemical markers characteristic of ChRCC. This invention provides a valuable tool for further studying the genetic, molecular, and biological characteristics of ChRCC and offers a powerful new model for mitochondrial disease.

The invention discloses an application of N4-acetylcytidine (ac4C) in preparation of a medicine for delaying senescence and prolonging life. The method is realized by reducing the overall ac4C modification level of RNA (including rRNA, tRNA, mRNA, ncRNA and the like) in a living body, and specifically can be realized by inhibiting the expression of a key catalytic adapter protein THUMPD1 or using an inhibitor targeting THUMPD1 / ac4C. The invention also provides an application of a reagent for detecting the aging degree or diagnosing aging-related diseases, such as Alzheimer's disease, mitochondrial diseases, tumors and the like, in preparation of a detection kit based on the ac4C modification level of a specific target RNA molecule, and provides a brand new target spot and strategy for aging intervention and accompanying disease diagnosis and treatment.

The invention discloses a mitochondrial DNA variation pathogenicity evaluation method, and relates to the technical field of variation analysis, and the method comprises the following steps: obtaining mitochondrial DNA of a to-be-detected suspected mitochondrial disease patient, carrying out high-throughput sequencing, quality screening and site comparison on the DNA, obtaining first VCF file data, screening the first VCF file data, constructing a second variation site set, and determining the pathogenicity of the mitochondrial DNA variation pathogenicity of the to-be-detected suspected mitochondrial disease patient. On the basis of the second variation site set, according to the evaluation standard table, evaluating the mitochondrial DNA variation pathogenicity of the suspected mitochondrial disease patient, effectively rejecting low-quality data by combining a three-level quality screening system with variation site double filtering conditions, providing a high-confidence variation site set for subsequent analysis, and improving the accuracy of the quality of the suspected mitochondrial disease patient. The mitochondrial DNA mutation pathogenicity evaluation is more comprehensive and accurate by performing three-level quality screening, multi-database combined filtering and dynamic scoring mechanism on the mitochondrial DNA.

The invention relates to a tobacco CMS-S type cytoplasmic male sterility gene orf291 and application thereof in tobacco breeding, which are characterized in that the tobacco CMS-S type cytoplasmic male sterility gene orf291 is obtained by sequencing mitochondrial genomes of a tobacco sterile plant MSK326 and a fertile plant K326, and screening conditions that a candidate sterile gene sequence length exists, a transmembrane structure domain and a chimeric gene exist in the mitochondrial genomes of the sterile plant but do not exist in the mitochondrial genomes of the sterile plant, and the like. Finally, it is clear that the tobacco CMS-S type sterile gene orf291 is the only tobacco sterile gene meeting the same conditions, and a gene expression analysis result shows that orf291 is massively expressed in a tobacco sterile plant MSK326 and is not expressed in a fertile plant K326. The clear sequence of the CMS-S type sterile gene orf291 provides a necessary targeting target for subsequently creating a tobacco restorer line through targeted knockout of the gene and preventing and treating tobacco mitochondrial diseases, and has important application potential in tobacco crossbreeding.

The present invention provides a technique capable of cleaving one of a mutant mtDNA and a wild-type mtDNA more specifically. The TAL effector nuclease pair comprises a first TAL effector nuclease monomer and a second TAL effector nuclease monomer which have a target sequence interval of 12-20 bases, and each of the first TAL effector nuclease monomer and the second TAL effector nuclease monomer comprises a DNA binding domain which comprises RVD and binds to DNAs of 8-15 bases, and a DNA cleavage domain of FokI endonuclease; the RVDs include a first RVD that recognizes a base at a mitochondrial disease-inducing mutation site, and a second RVD that recognizes a base other than the mitochondrial disease-inducing mutation site, the first RVD being at least one of an NM that recognizes adenine, a WK that recognizes guanine, and an LK that recognizes guanine, the second RVD recognizing adenine by NI and guanine by NN.

To provide a composition for use in the treatment of mitochondrial DNA depletion and / or multiple deletions syndrome.SOLUTION: Provided is a composition for use in the treatment of mitochondrial DNA depletion and / or deletion syndrome caused by a defect in DNA polymerase gamma subunit 1 (POLG1), the composition comprising more than one canonical deoxyribonucleoside selected from the group consisting of deoxyadenosine, deoxyguanosine, deoxycytidine, and deoxythymidine, wherein the deoxyribonucleosides are present in an equimolar ratio.SELECTED DRAWING: None

The invention discloses a triphenylphosphonyl imidazole compound, a compound and application, the triphenylphosphonyl imidazole compound provided by the invention is used as an RNA 2 '-hydroxyl reversible protective agent, the stability and controllable release of an RNA drug are improved, and targeted mitochondrial delivery of siRNA under the condition of not damaging cells is successfully realized; in addition, effective silencing of specific mitochondrial genes can be achieved, the aim of inhibiting tumors is achieved by weakening the normal function of mitochondria, and experience and possibility are provided for achieving mitochondrial disease treatment through RNA targeted delivery.

The present invention relates to methods and compositions comprising a combination of oleuropein and / or metabolite thereof and adenosylcobalamin in an effective amount for use in achieving at least one result selected from the group consisting of i) preventing and / or treating a mitochondria-related disease or condition associated with altered mitochondrial function and / or ii) at least one physical state selected from the group consisting of oxidative stress or a condition associated with oxidative stress in an individual; (iii) increasing mitochondrial energy, cellular energy, mitochondrial function and mitochondrial calcium uptake in one or more cells, (iv) increasing resistance to age-related pathologies; (v) improving a physiological state or disorder related to cell ageing or metabolic fatigue in one or more cells; (vi) improving mobility and / or (vii) improving healthspan and / or lifespan in an individual.

The invention belongs to the technical field of gene diagnosis of granulopathy MELAS, and particularly relates to a biomarker combination, a diagnosis model and a system for diagnosing mitochondrial disease MELAS. The biomarker combination for diagnosing the mitochondrial disease MELAS is composed of five genes, namely, VGF, GPR3, NTSR1, PTTG1 and SCG2. A mitochondrial disease MELAS diagnosis model is a random forest model, expression quantities of five genes in a sample from a subject are used as input variables, disease states are used as predictive variables, and hyper-parameter tuning is performed through a Bayesian optimization algorithm. The biomarker combination provided by the invention can effectively diagnose MELAS, and the provided MELAS diagnosis model has the characteristics of noninvasiveness, high accuracy and the like, and is suitable for diagnosis of people of different age groups, genders and disease course stages.

The present disclosure provides methods, compounds, compositions, formulations or medicaments and related uses for treating, preventing, inhibiting, ameliorating or delaying the onset of a mitochondrial disease resulting from nuclear DNA mutations (e.g., mitochondrial DNA (mtDNA) depletion syndrome) in a subject. The methods comprise administering to the subject compounds, compositions, formulations or medicaments disclosed herein to thereby produce the aforementioned therapeutically beneficial effect(s).

The present invention relates to methods and compositions comprising secoxyloganin in an effective amount for use in achieving at least one result selected from the group consisting of i) preventing and / or treating a mitochondria-related disease or condition associated with altered mitochondrial function and / or ii) at least one physical state selected from the group consisting of oxidative stress or a condition associated with oxidative stress in an individual; (iii) increasing mitochondrial energy, cellular energy, mitochondrial function and mitochondrial calcium uptake in one or more cells, (iv) increasing resistance to age-related pathologies; (v) improving a physiological state or disorder related to cell ageing or metabolic fatigue in one or more cells; (vi) improving mobility and / or (vii) improving healthspan and / or lifespan in an individual.

Methods and compositions for introducing an exogenous mitochondrion harvested from a donor cell into a recipient cell are provided. Also provided are methods and compositions for producing a modified mitochondrion and treating mitochondrial disease in an individual with the mitochondrial disease. Further provided are modified mitochondria, genetically modified mitochondria, genetically modified cells, isolated compositions and pharmaceutical compositions for practicing the subject methods.

The present invention relates to methods and compositions comprising secologanoside in an effective amount for use in achieving at least one result selected from the group consisting of i) preventing and / or treating a mitochondria-related disease or condition associated with altered mitochondrial function and / or ii) at least one physical state selected from the group consisting of oxidative stress or a condition associated with oxidative stress in an individual; (iii) increasing mitochondrial energy, cellular energy, mitochondrial function and mitochondrial calcium uptake in one or more cells, (iv) increasing resistance to age-related pathologies; (v) improving a physiological state or disorder related to cell ageing or metabolic fatigue in one or more cells; (vi) improving mobility and / or (vii) improving healthspan and / or lifespan in an individual.