Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases
| العنوان: | Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases |
|---|---|
| المؤلفون: | Andre E. Minoche, Maina P. Kava, Alison G. Compton, David Coman, Mark J. Cowley, John Christodoulou, AnneMarie E. Welch, Rocio Rius, David R. Thorburn, Naomi L. Baker |
| المصدر: | Genes, Vol 12, Iss 607, p 607 (2021) Genes Volume 12 Issue 4 |
| بيانات النشر: | MDPI AG, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | 0301 basic medicine, Male, Mitochondrial DNA, Mitochondrial Diseases, Adolescent, Mitochondrial disease, respiratory chain, Respiratory chain, Computational biology, Biology, QH426-470, Genome, Article, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, medicine, Genetics, Humans, Genetic Predisposition to Disease, heteroplasmy, Genetics (clinical), Whole genome sequencing, Whole Genome Sequencing, Genetic Variation, High-Throughput Nucleotide Sequencing, DNA, medicine.disease, Heteroplasmy, mitochondria, genome sequencing, 030104 developmental biology, Early Diagnosis, Child, Preschool, Human genome, Female, mutation, 030217 neurology & neurosurgery |
| الوصف: | Mitochondrial diseases can be caused by pathogenic variants in nuclear or mitochondrial DNA-encoded genes that often lead to multisystemic symptoms and can have any mode of inheritance. Using a single test, Genome Sequencing (GS) can effectively identify variants in both genomes, but it has not yet been universally used as a first-line approach to diagnosing mitochondrial diseases due to related costs and challenges in data analysis. In this article, we report three patients with mitochondrial disease molecularly diagnosed through GS performed on DNA extracted from blood to demonstrate different diagnostic advantages of this technology, including the detection of a low-level heteroplasmic pathogenic variant, an intragenic nuclear DNA deletion, and a large mtDNA deletion. Current technical improvements and cost reductions are likely to lead to an expanded routine diagnostic usage of GS and of the complementary “Omic” technologies in mitochondrial diseases. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 2073-4425 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a4687657aa249fd3b8f8f14278c184fTest https://www.mdpi.com/2073-4425/12/4/607Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....7a4687657aa249fd3b8f8f14278c184f |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 20734425 |
|---|