Human Mitochondrial Genetics

Human mitochondrial genetics is the study of the genetics of human mitochondrial DNA (the DNA contained in human mitochondria). The human mitochondrial genome is the entirety hereditary information contained in human mitochondria. Mitochondria are small structures in cells that generate energy for the cell to use, and are hence referred to as the "powerhouses" of the cell.

Mitochondrial DNA (mtDNA) is not transmitted through nuclear DNA (nDNA). In humans, as in most multicellular organisms, mitochondrial DNA is inherited only from the mother's ovum. There are theories, however, that paternal mtDNA transmission in humans can occur in certain circumstances.

Mitochondrial inheritance is therefore non-Mendelian, as Mendelian inheritance presumes that half the genetic material of a fertilized egg (zygote) derives from each parent.

Eighty percent of mitochondrial DNA codes for functional mitochondrial proteins, and therefore most mitochondrial DNA mutations lead to functional problems, which may be manifested as muscle disorders (myopathies).

Because they provide 36 molecules of ATP per glucose molecule in contrast to the 2 ATP molecules produced by glycolysis, mitochondria are essential to all higher organisms for sustaining life. The mitochondrial diseases are genetic disorders carried in mitochondrial DNA, or nuclear DNA coding for mitochondrial components. Slight problems with any one of the numerous enzymes used by the mitochondria can be devastating to the cell, and in turn, to the organism.

Read more about Human Mitochondrial GeneticsQuantity, Inheritance Patterns, Genetic Code Variants, Replication, Repair, Transcription, and Translation, Use in Identification

Other articles related to "humans, mitochondrial, human mitochondrial, human mitochondrial genetics, human":

MT-TV (mitochondrial)
... encoded tRNA valine also known as MT-TV is a transfer RNA which in humans is encoded by the mitochondrial MT-TV gene ... MT-TV is a small 69 nucleotide RNA (human mitochondrial map position 1602-1670) that transfers the amino acid valine to a growing polypeptide chain at the ribosome site of ...
Human Mitochondrial Genetics - Use in Identification
... Human mtDNA can also be used to help identify individuals ... occasionally use mtDNA comparison to identify human remains, and especially to identify older unidentified skeletal remains ... Hesse), last Empress of Russia, and her children were identified by comparison of their mitochondrial DNA with that of Prince Philip, Duke of Edinburgh, whose maternal grandmother was Alexandra’s sister Victoria of ...
Mitochondrial Biogenesis
... Mitochondrial biogenesis is the process by which new mitochondria are formed in the cell ... Mitochondrial biogenesis is activated by numerous different signals during times of cellular stress or in response to environmental stimuli ... that higher mitochodrial copy number (or higher mitochondrial mass) is protective for the cell ...
Sorting And Assembly Machinery - Protein Import and Integration
... Like all mitochondrial proteins, beta barrel proteins are transported into the intermembrane space of mitochondria via the translocase of the outer membrane ... integration of beta barrel proteins into the outer mitochondrial membrane ... Mdm10 is another mitochondrial membrane protein that is responsible for maintaining mitochondrial morphology and distribution ...
SLC25A27
... Mitochondrial uncoupling protein 4 is a protein that in humans is encoded by the SLC25A27 gene ... Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP) ... with energy dissipated as heat, also referred to as the mitochondrial proton leak ...

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