Mitochondrial DNA Analysis with SOPHiA DDM™

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Why are mitochondrial DNA variants important?

Mitochondria are maternally inherited organelles with their own genome, separate to nuclear DNA. There are many mitochondrial genome copies per cell each containing genes essential for growth & development. Mutations of these genes (variants) cause more than 120 hereditary disorders1, affecting approximately 1 in 5000 individuals2.

Symptoms for many mitochondrial disorders are wide-ranging and may not appear until adulthood (late-onset), with several gene mutations potentially contributing to each issue. Consequently, the journey to accurately identifying and treating these disorders can be long and difficult for the affected individual, their family, and their healthcare providers.

How are mitochondrial DNA variants detected?

Despite the significance of these mutations, mitochondrial DNA sequencing is rarely included in genetic testing due to challenges during sample processing and analysis. When incorporated, mitochondrial testing typically requires added internal, specialized resources or additional wait-times via third-party service labs.

SOPHiA GENETICS empowers users to take mitochondrial investigation into their own hands. SOPHiA DDM™ mitochondrial DNA analysis is integrated & streamlined to easily investigate variants and deliver stronger, faster insights for more effective understanding of hereditary disorders.

1. Habbane M, et al. Biomedicines 2021 Oct;9(10):1364.
2. Falk MJ, Sondheimer N. Curr Opin Pediatr 2010 Dec;22(6):711-6.

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Benefits of SOPHiA DDM™ mitochondrial analysis:

One streamlined analytical workflow: reduce hands-on time and obtain faster results
No more sending samples out: reduce lengthy wait times while testing with 3rd-party facilities
Sensitive variant calling (SNVs & Indels): detect heteroplasmy at 100% sensitivity down to 5% variant frequency
Proprietary software algorithms identify & filter homologous nuclear sequences
Integrated key databases for confident variant annotation
Alamut Visual Plus™ provides additional tools & genome browsing for enhanced insights

Heteroplasmy & SOPHiA DDM™

Within each cell, there are multiple copies of the mitochondrial genome. Mutations of mitochondrial DNA are not necessarily present in all genomes or in all mitochondria, and this variation in abundance of mutations per cell is called heteroplasmy. The proportion of pathogenic variants in each cell or tissue (variant frequency) plays a critical role in determining the symptoms and progression of mitochondrial disorders. To research and understand these disorders effectively, accurate, reliable solutions are required. SOPHiA DDM™ mitochondrial analysis provides 100% sensitivity down to 5% variant frequency for an enhanced view into the scope & nature of mitochondrial variants.

mtdna sensitivity precision

Figure legend: Sensitivity & precision results from SOPHiA DDM™ mitochondrial analysis vs expected variant frequencies. Sensitivity & precision for mitochondrial SNVs/Indels was calculated on 96 variants (93 SNPs and 3 Indels), sequenced using an Illumina NextSeq® instrument. SOPHiA DDM™ provides 100% sensitivity down to 5% variant frequency (and only slightly lower at 2% VF) for confident variant investigation & interpretation (data on file).

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