37 results about "Mitochondrial mutation" patented technology

The present invention provides methods for diagnosing and treating Parkinson's disease based on mitochondrial mutations. The present invention also provides methods for diagnosing and treating other diseases and disorders based on mitochondrial mutations.

Disclosed are synthetic mitochondria obtained by introducing exogenous DNA into mitochondria or mitochondrial shells. Cells containing exogenous mitochondria are then obtained by introducing the synthetic mitochondria into mammalian cells via endocytosis, thereby allowing the exogenous mitochondria to perform effectively within the cells. After being introduced, synthetic mitochondrial DNA genes can be expressed stably, and passaged effectively. The method for introducing exogenous mitochondria into cells can serve as a new mitochondrial molecular cloning method, performing gene knockout, gene knock-in, gene rearrangement etc. within mitochondria, thereby enabling any molecular cloning of mammalian mitochondrial DNA to be engineered, which has significant implications for the treatment of diseases caused by mitochondrial DNA mutations.

The invention relates to the field of gene technology, in particular to a primer-pair-probe combination product for detecting mitochondrial 3243A>G mutation, a kit and a detection method thereof. The invention uses ARMS combined with fluorescent PCR technology to have high specificity and high sensitivity, short detection time, low cost, intuitive and easy interpretation of results.

The invention relates to a detection primer, a kit and a detection method for the mutation of the mitochondrial DNA gene of Leber's hereditary optic neuropathy. Based on the principle of Sanger sequencing, the present invention has the characteristics of high sensitivity, stability and accuracy, can simultaneously detect the four most common pathogenic mutations of LHON mtDNA, and solves the low sensitivity and the The problems of insufficient specificity, easy pollution and high cost provide LHON with an accurate genetic diagnosis method, which is of great significance for genetic counseling and gene therapy of the disease.

The present invention publicly predicts the method of mitochondrial DNA mutation threshold, fertility risk and egg retrieval, including the following steps: first establish a mitochondrial mutant probability predictive model and estimate the mutation threshold S, then establish a maternity risk prediction model, and predict the maternity risk of mutant carrier carrier.P, then use two distributions to establish an egg mother cell extraction predictive model and calculate the number of egg retrieval of the mutant carrier; the prediction model of the incidence of the present invention predicts the threshold of common MTDNA mutations, and predicts the mother's fertility risk and PGT egg retrieval numberOn the basis of the establishment of a maternity risk prediction model and an egg retrieval prediction model, you only need to know that the mitochondrial DNA mutation ratio of the mutant carrier can calculate the minimum PGT egg collection required by the healthy child generation.Help clinicians to conduct genetic management of families carrying MTDNA heterogeneous mutations and provide genetic consultation, and provide standard guidelines for PGT.