Structure, Function and Mitochondrial Biochemistry
Mitochondria are cellular components that are very important for the body's metabolism to produce energy that will be utilized for the survival of an organism, the process of apoptosis and the mechanism of aging. Literally mitochondria come from Greek terms namely myths (like threads) and chondros (granules) which means organelles whose size resembles bacteria. Mitochondria are found in all types of nucleated cells except red blood cells and are the main energy source for cells in the form of ATP (Adenosine Triphosphate).
The structural mitochondria contain separate DNA (mitochondrial DNA or mtDNA) that is different from the nucleus DNA and inherited maternally through the cytoplasm. The human mitochondrial genome is around 16.6 kb containing 37 genes consisting of 13 protein-coding genes involved in the mechanism of oxidative phosphorylation (OXPHOS) and 24 other genes [2 ribosomal mitochondrial RNA (mt-RNA) and 22 RNA mitochondrial transfer (mt-tRNA). A study shows that most mutations occur in mt-tRNA, about 40% of mutations occur in protein-coding genes, and only 2% mutations in the mt-rRNA gene. Since 1988 there have been found around 270 point mutations caused by mtDNA.
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All mitochondrial protein factors needed for RNA synthesis, endonucleolytic processes, modification of post transcription, aminoacylation, regulation of RNA stability, RNA replacement, factors for the biogenesis of mitochondrial ribosomes and translation are encoded by nucleus DNA (nDNA). The protein molecule is carried from the translation results in the cytosol to mitochondria. Some studies state that there are around 250-300 proteins encoded by nucleus DNA for the mechanism of mitochondrial gene expression. Mutations related to mitochondrial disease are found to occur in nucleus DNA or mitochondrial DNA (mtDNA). Mutations in nDNA mitochondrial gene coding are more common than mutations in mtDNA, but the mutation rate of the mtDNA gene is higher compared to the nDNA gene because of the role of mtDNA in the production of mitochondrial ROS.
Mitochondrial genetic abnormalities can be produced in mtDNA in the form of deletion mutations, point mutations or depletion which results in functional loss of mitochondria in the OXPHOS mechanism. Mutations can occur spontaneously or offspring on the gene found in mtDNA. Mitochondrial dysfunction was found to have an association with a variety of degenerative diseases, metabolic diseases, cancer and aging. Another study revealed that mitochondrial dysfunction in general and mtDNA mutations in particular have a role in neurodegenerative diseases such as Alzheimer's, Parkinson's and Huntington's.
Attempts to determine mtDNA abnormalities can be done by checking through core proteins on mtDNA replication or genes involved in providing mitochondrial nuclotid precursors needed for mtDNA replication.
Mitochondrial genetic therapy is developed at both the nDNA and mtDNA gene levels. The most effective approach to the mitochondrial gene encoded by nDNA is one strategy to deal with the condition of recessive mutations in an effort to restore functional biochemical balance. Gene therapy in the case of mtDNA mutations can be done through approaches such as direct normal mtDNA intervention in damaged mtDNA, reduction in the percentage of mutant mtDNA, and direct mtDNA medication.
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Author: Dian Juliadmi
Reference:
Cooperland, W. 2008. Inherited Mitochondrial Diseases of DNA Replication. Annu Rev Med, 59, 131-146.
Schon, E.A., S. DiMauro, and M. Hirano. 2012. Human mitochondrial DNA: roles of inherited and somatic mutations. Nat Rev Genet, 13 (2), 878-890.
Wallace, D.C., W. Fan and V. Procaccio. 2010. Mitochondrial Energetics and Therapeutics. Annu Rev Pathol, 5, 297-348.
The structural mitochondria contain separate DNA (mitochondrial DNA or mtDNA) that is different from the nucleus DNA and inherited maternally through the cytoplasm. The human mitochondrial genome is around 16.6 kb containing 37 genes consisting of 13 protein-coding genes involved in the mechanism of oxidative phosphorylation (OXPHOS) and 24 other genes [2 ribosomal mitochondrial RNA (mt-RNA) and 22 RNA mitochondrial transfer (mt-tRNA). A study shows that most mutations occur in mt-tRNA, about 40% of mutations occur in protein-coding genes, and only 2% mutations in the mt-rRNA gene. Since 1988 there have been found around 270 point mutations caused by mtDNA.
Also read : Temenggung Mask Dance A Symbol of Knighthood with authority
All mitochondrial protein factors needed for RNA synthesis, endonucleolytic processes, modification of post transcription, aminoacylation, regulation of RNA stability, RNA replacement, factors for the biogenesis of mitochondrial ribosomes and translation are encoded by nucleus DNA (nDNA). The protein molecule is carried from the translation results in the cytosol to mitochondria. Some studies state that there are around 250-300 proteins encoded by nucleus DNA for the mechanism of mitochondrial gene expression. Mutations related to mitochondrial disease are found to occur in nucleus DNA or mitochondrial DNA (mtDNA). Mutations in nDNA mitochondrial gene coding are more common than mutations in mtDNA, but the mutation rate of the mtDNA gene is higher compared to the nDNA gene because of the role of mtDNA in the production of mitochondrial ROS.
Mitochondrial genetic abnormalities can be produced in mtDNA in the form of deletion mutations, point mutations or depletion which results in functional loss of mitochondria in the OXPHOS mechanism. Mutations can occur spontaneously or offspring on the gene found in mtDNA. Mitochondrial dysfunction was found to have an association with a variety of degenerative diseases, metabolic diseases, cancer and aging. Another study revealed that mitochondrial dysfunction in general and mtDNA mutations in particular have a role in neurodegenerative diseases such as Alzheimer's, Parkinson's and Huntington's.
Attempts to determine mtDNA abnormalities can be done by checking through core proteins on mtDNA replication or genes involved in providing mitochondrial nuclotid precursors needed for mtDNA replication.
Mitochondrial genetic therapy is developed at both the nDNA and mtDNA gene levels. The most effective approach to the mitochondrial gene encoded by nDNA is one strategy to deal with the condition of recessive mutations in an effort to restore functional biochemical balance. Gene therapy in the case of mtDNA mutations can be done through approaches such as direct normal mtDNA intervention in damaged mtDNA, reduction in the percentage of mutant mtDNA, and direct mtDNA medication.
Also read : Uniquely the Monument to Jesus Blessing in Manado
Author: Dian Juliadmi
Reference:
Cooperland, W. 2008. Inherited Mitochondrial Diseases of DNA Replication. Annu Rev Med, 59, 131-146.
Schon, E.A., S. DiMauro, and M. Hirano. 2012. Human mitochondrial DNA: roles of inherited and somatic mutations. Nat Rev Genet, 13 (2), 878-890.
Wallace, D.C., W. Fan and V. Procaccio. 2010. Mitochondrial Energetics and Therapeutics. Annu Rev Pathol, 5, 297-348.
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