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Mitochondrial genome sequencing

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Mitochondrial genome sequencing

Human mitochondrial DNA is a closed-loop, double-stranded DNA molecule containing 16,569 base pairs. It encodes 37 genes: the coding sequence of 13 peptide subunits is related to oxidative phosphorylation of the respiratory chain; it also encodes 22 tRNA coding sequences and 2 rRNAs related to mitochondrial protein synthesis. Mutations in these genes can cause changes in mitochondrial-encoded proteins, which may lead to diseases, especially energy-consuming organs such as the brain, muscles and heart, which are usually affected, such as Alzheimer's disease, Parkinson's disease, autism, Epilepsy, optic nerve atrophy, heart disease, obesity, and diabetes. At the same time, mitochondrial disease is a heterogeneous genetic disease that can occur in any age group, and there are phenotypic variability and genetic heterogeneity among different individuals. For the study of mitochondrial disease-related mutations, this product uses the Roche Nimblegen SeqCap EZ Share Choice XL chip to capture and sequence the mitochondrial genome, and uses the Illumina sequencing platform for high-throughput sequencing to fully meet the precise clinical diagnosis and scientific research requirements.

● -The proportion of m.3243A> G mutation in the blood of patients with MIDD is generally between 1% and 40%, and leukocytes usually contain the lowest heterocytoplasm in the body, so genetic testing of blood cells in individual patients with MIDD is negative. Other samples, such as urine and mouthwash, have higher heterocytosis than leukocytes and should be used for mutation detection in MIDD.

● The cytoplasmicity of m.3243A> G in white blood cells of patients with -MIDD decreases with age, with an average annual decrease of about 1.4%, while other tissues such as muscle have a stable mutation rate and even a mutation rate will gradually increase. The reason is that the leukocyte renewal rate is extremely high, and the muscle and other tissue cells have a low renewal rate or no longer divide and proliferate, and the mutation will be retained. Leukocyte mitochondrial DNA mutations are decreasing year by year. Genetic testing is required to ensure the maximum detection rate.

● -The level of blood cytoplasm is not related to the onset and severity of diabetes, but it is related to deafness. The higher the mutation rate, the earlier and more severe the hearing loss.

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