Academic Journal

Mitochondrial DNA: Inherent Complexities Relevant to Genetic Analyses.

التفاصيل البيبلوغرافية
العنوان: Mitochondrial DNA: Inherent Complexities Relevant to Genetic Analyses.
المؤلفون: Ferreira, Tomas, Rodriguez, Santiago
بيانات النشر: MDPI AG
//doi.org/10.3390/genes15050617
Genes (Basel)
سنة النشر: 2024
المجموعة: Apollo - University of Cambridge Repository
مصطلحات موضوعية: copy number variations, epigenetic modifications, genetic analyses, genome-wide association studies, heteroplasmy, mitochondrial DNA, phenome-wide association studies, population genetics, Humans, DNA, Mitochondrial, DNA Copy Number Variations, Epigenesis, Genetic, Genome-Wide Association Study, Mitochondria, Genetic Predisposition to Disease
الوصف: Peer reviewed: True ; Publication status: Published ; Mitochondrial DNA (mtDNA) exhibits distinct characteristics distinguishing it from the nuclear genome, necessitating specific analytical methods in genetic studies. This comprehensive review explores the complex role of mtDNA in a variety of genetic studies, including genome-wide, epigenome-wide, and phenome-wide association studies, with a focus on its implications for human traits and diseases. Here, we discuss the structure and gene-encoding properties of mtDNA, along with the influence of environmental factors and epigenetic modifications on its function and variability. Particularly significant are the challenges posed by mtDNA's high mutation rate, heteroplasmy, and copy number variations, and their impact on disease susceptibility and population genetic analyses. The review also highlights recent advances in methodological approaches that enhance our understanding of mtDNA associations, advocating for refined genetic research techniques that accommodate its complexities. By providing a comprehensive overview of the intricacies of mtDNA, this paper underscores the need for an integrated approach to genetic studies that considers the unique properties of mitochondrial genetics. Our findings aim to inform future research and encourage the development of innovative methodologies to better interpret the broad implications of mtDNA in human health and disease.
نوع الوثيقة: article in journal/newspaper
وصف الملف: text/xml; application/pdf
اللغة: English
Relation: https://www.repository.cam.ac.uk/handle/1810/369411
الاتاحة: https://www.repository.cam.ac.uk/handle/1810/369411
Rights: Attribution 4.0 International ; https://creativecommons.org/licenses/by/4.0/
رقم الانضمام: edsbas.4064AA48
قاعدة البيانات: BASE