Mitochondrial Disease Association Analysis

Creative Biogene not only provides mtDNA mutation screening, but we can also customize professional mtDNA mutation and disease association analysis services for you according to your project.

Disease-Association-AnalysisThe mutation rate of the mitochondrial genome is 10 to 17 times higher than that of nuclear DNA. Although the mtDNA repair system does exist, it is not enough to counteract oxidative damage of mitochondrial genome and lack of protective histones. Most of the mitochondrial DNA changes are neutral polymorphisms. The first batch of pathogenic mitochondrial DNA mutations was discovered in 1988. Since then, more than 250 pathogenic mtDNA mutations (point mutations and rearrangements) have been characterized, but the prevalence of mtDNA mutations is still underestimated.

With rich experience in mitochondrial mutation research, Creative Biogene has constructed three important breakthroughs on mtDNA mutation research by a team of senior experts. Starting from these three aspects, we can well explore the study of mitochondrial mutation, which is described in detail as follows.

  • MtDNA Point Mutation
  • The mt-tRNA genes of different diseases were detected by Creative Biogene, and the association model was established. Mitochondrial DNA point mutations are usually maternal inheritance. More than half of the reported disease-related point mutations are located in the mt-tRNA gene and most of them are heterogeneous, showing obvious clinical heterogeneity and are considered to be highly recessive.

  • MtDNA Rearrangement Mutation
  • Most mitochondrial DNA rearrangement mutations are large-scale deletions of different sizes and involve multiple genes. Creative Biogene provides research services for mitochondrial DNA rearrangement mutations in different diseases and different stages and tracks mitochondrial DNA rearrangement mutations in different disease stages.

  • MtDNA Deletion
  • The number and tissue distribution of mitochondrial DNA deletions are the most important factors determining clinical symptoms, not the size and location of deletions. Therefore, Creative Biogene focuses on the number and tissue distribution of mitochondrial DNA deletions, establishes a comparative analysis system between normal tissues and pathological tissues, and provides professional reference data.

Service Flow

Creative Biogene provides the optional research options for each of the above mtDNA mutations, and customers can combine research programs arbitrarily according to the content of the project. Besides, our experts also provide you with customized personalized services at any time.

Our Advantages

  • Rich experience in the analysis of the association between mitochondrial DNA mutations and diseases
  • Outstanding research team
  • Unique integrated service for mitochondrial research
  • Reliable data and results
  • Rapid turnaround and cost-effective

For more information about the association between mitochondrial DNA mutations and disease, please contact us and we are always at your service.


  1. Helen A.L., et al. (2010). “ Mitochondrial DNA mutations and human disease.” Biochimica et Biophysica Acta. 2(1797): 113-128.
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