![The Human Mitochondrial Genome](https://img.perlego.com/book-covers/1810407/9780128226421_300_450.webp)
The Human Mitochondrial Genome
From Basic Biology to Disease
Giuseppe Gasparre,Anna Maria Porcelli
- 596 pages
- English
- ePUB (adapté aux mobiles)
- Disponible sur iOS et Android
The Human Mitochondrial Genome
From Basic Biology to Disease
Giuseppe Gasparre,Anna Maria Porcelli
Ă propos de ce livre
The Human Mitochondrial Genome: From Basic Biology to Disease offers a comprehensive, up-to-date examination of human mitochondrial genomics, connecting basic research to translational medicine across a range of disease types. Here, international experts discuss the essential biology of human mitochondrial DNA (mtDNA), including its maintenance, repair, segregation, and heredity. Furthermore, mtDNA evolution and exploitation, mutations, methods, and models for functional studies of mtDNA are dealt with. Disease discussion is accompanied by approaches for treatment strategies, with disease areas discussed including cancer, neurodegenerative, age-related, mtDNA depletion, deletion, and point mutation diseases. Nucleosides supplementation, mitoTALENs, and mitoZNF nucleases are among the therapeutic approaches examined in-depth.
With increasing funding for mtDNA studies, many clinicians and clinician scientists are turning their attention to mtDNA disease association. This book provides the tools and background knowledge required to perform new, impactful research in this exciting space, from distinguishing a haplogroup-defining variant or disease-related mutation to exploring emerging therapeutic pathways.
- Fully examines recent advances and technological innovations in the field, enabling new mtDNA studies, variant and mutation identification, pathogenic assessment, and therapies
- Disease discussion accompanied by diagnostic and therapeutic strategies currently implemented clinically
- Outlines and discusses essential research protocols and perspectives for young scientists to pick up
- Features an international team of authoritative contributors from basic biologists to clinician-scientists
Foire aux questions
Informations
mtDNA replication, maintenance, and nucleoid organization
Abstract
Keywords
1.1 Human mitochondrial DNA
1.1.1 Characteristics of mitochondrial DNA
1.1.2 Organization of the human mitochondrial genome
![image](OEBPS/images/F000012f01-01-9780128196564-plgo-compressed.webp)
(A) The mitochondrial genome has a size of 16,568 base pairs in humans. The two strands are termed heavy (H-strand) and light strand (L-strand). The location of the displacement loop (D-loop) is indicated in the noncoding region between tRNAPro and tRNAPhe, and the position of the genes for complex I (NADH dehydrogenase; ND), complex III (cytochrome b; CYTB), complex IV (cytochrome c oxidase; COX), as well as complex V (ATP synthase; ATPase) subunits of the respiratory system are shown. Highlighted with gray boxes are the sites of replication priming in the OH region (B) and at OL (C). (B) Characteristic features of the noncoding region are the promoters HSP and LSP, the highly conserved sequence blocks (CSB 1â3), the single-termination sequence (TAS), and the DNA stretch (7S DNA) that forms the D-loop. Priming in the OH region is initiated with a RNA primer and RNA-to-DNA transition sites were mapped to the CSB region. (C) Priming at OL involves the formation of a DNA stem-loop structure and the synthesis of a short RNA primer by POLRMT. The RNA-to-DNA transition sites were mapped downstream of the OL region.
1.2 The process of mtDNA replication
1.2.1 Replication mechanisms
![image](OEBPS/images/F000012f01-02-9780128196564-plgo-compressed.webp)
Mitochondrial DNA is replicated by a unique enzymatic machinery that includes the heterotrimeric DNA polymerase POL ÉŁ (pink), the mitochondrial single-stranded DNA-binding protein mtSSB (green), and the DNA helicase Twinkle (blue). (1) After initiation at the leading strand origin (OH),...