mitochondrial dna structure and function pdf

Mitochondrial dna structure and function pdf

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Health Conditions Related to Chromosomal Changes


Structure and function of the mitochondrial genome

Health Conditions Related to Chromosomal Changes

It is now clear that molecular defects in human mitochondrial DNA play a significant role in human disease. Mitochondrial DNA mutations range from single base changes in the Independently of the actual cause of a given mutation, it is possible to predict at least some of the consequences of changes in mitochondrial DNA sequence. This paper reviews our overall understanding of the mode and mechanism of mitochondrial DNA replication and transcription and how this relates to mitochondrial gene expression. This provides a background to anticipate the nature and extent of mitochondrial DNA sequence changes that might be of physiological consequence.

The mitochondrial genome is vital for Caenorhabditis elegans metabolism, physiology, and development. The C. It is 13, nucleotides in length and encodes 36 genes: 2 ribosomal RNAs, 22 transfer RNAs, and 12 protein subunits of the mitochondrial respiratory chain. Although it represents only a small number of genes, an elaborate cellular machinery comprised of over nuclear genes is needed to replicate, transcribe, and maintain the mitochondrial chromosome and to assemble the translation machinery needed to express this dozen proteins. Mitochondrial genetics is peculiar and complex because mitochondrial DNA is maternally inherited and can be present at tens to tens of thousands of copies per cell.

Mitochondrion , membrane-bound organelle found in the cytoplasm of almost all eukaryotic cells cells with clearly defined nuclei , the primary function of which is to generate large quantities of energy in the form of adenosine triphosphate ATP. Mitochondria are typically round to oval in shape and range in size from 0. In addition to producing energy, mitochondria store calcium for cell signaling activities, generate heat, and mediate cell growth and death. The number of mitochondria per cell varies widely; for example, in humans, erythrocytes red blood cells do not contain any mitochondria, whereas liver cells and muscle cells may contain hundreds or even thousands. The only eukaryotic organism known to lack mitochondria is the oxymonad Monocercomonoides species.


If your institution subscribes to this resource, and you don't have a MyAccess Profile, please contact your library's reference desk for information on how to gain access to this resource from off-campus. Please consult the latest official manual style if you have any questions regarding the format accuracy. Mitochondria are cytoplasmic organelles whose major function is to generate ATP by the process of oxidative phosphorylation under aerobic conditions. This process is mediated by the respiratory electron transport chain ETC multiprotein enzyme complexes I—V and the two electron carriers, coenzyme Q CoQ and cytochrome c. Other cellular processes to which mitochondria make a major contribution include apoptosis programmed cell death and additional cell type—specific functions Table 85e

Mitochondrial DNA is only a small portion of the DNA in a eukaryotic cell; most of the DNA can be found in the cell nucleus and, in plants and algae, also in plastids such as chloroplasts. Human mitochondrial DNA was the first significant part of the human genome to be sequenced. Since animal mtDNA evolves faster than nuclear genetic markers, [5] [6] [7] it represents a mainstay of phylogenetics and evolutionary biology. It also permits an examination of the relatedness of populations, and so has become important in anthropology and biogeography. Nuclear and mitochondrial DNA are thought to be of separate evolutionary origin, with the mtDNA being derived from the circular genomes of the bacteria that were engulfed by the early ancestors of today's eukaryotic cells. This theory is called the endosymbiotic theory.

Structure and function of the mitochondrial genome

Mitochondria are structures within cells that convert the energy from food into a form that cells can use. Each cell contains hundreds to thousands of mitochondria, which are located in the fluid that surrounds the nucleus the cytoplasm. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA.

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  • Partenia V. 23.04.2021 at 14:13

    I. Mammalian Mitochondrial Genomes. II. The Human mtDNA. III. Structure of the Human mtDNA D-Loop Region. IV. Mitochondrial DNA Replication. V. Initiation.

  • Benchbalupet 24.04.2021 at 13:41

    Mitochondria are the energy producing organelles of the cell, and mutations within their genome can cause numerous and often severe human diseases.

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