Mitochondrial diseases are chronic, inherited and genetic disorders that occur when mitochondria are not able to provide enough energy in cells. The diseases related to or affected by mitochondrial disorders include Parkinson’s disease, diabetes, Alzheimer’s disease, cardiac disease, hearing losing, some cancers and so forth. As the second most commonly diagnosed serious genetic disease, mitochondrial diseases affect one in 5,000 individuals worldwide. Two genomes in cells can lead to disease pathogenesis and the alterations in more than 250 nuclear mitochondrial DNA and mitochondrial DNA have been shown to cause mitochondrial dysfunction. The lack of genetic diagnoses and myriad of different symptoms make mitochondrial disease challenging.
By 2016, there have been 36 genes from the mitochondrial genome reported to be related to mitochondrial diseases. MT-ATP6/8 encodes two of the subunits of complex V in ATP synthase. The mutation m.8561C>G in the overlapping region of MT-ATP6/8 leads to impaired assembly and decreased ATP production of complex V. Besides MT-ATP6/8, other mitochondrial genes, such as MT-CO1-3, MT-CYB and MT-TL1/2, are also associated with oxidative phosphorylation complex deficiencies in mitochondrial diseases. Moreover, pathogenic variants in nuclear genes, such as COQ2, COQ9, DNM1L and SDHAF1-4, have been reported to participate in mitochondria disorders.
To have a better understanding and support the research on genes alteration in mitochondrial diseases, our custom mitochondrial disease panel platform offers a comprehensive panel library from which you can choose for genetic testing of mitochondrial diseases. We provide targeted DNA sequencing technology to efficiently identify alterations in genomic and mitochondrial DNA among the mitochondrial diseases that relate genes of interest. Our service will help researchers mine accurate and meaningful data from the samples and accelerate research development.
For more information about the Custom Mitochondrial Diseases Panel or need other amplification requirements, please contact us.