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Mitochondrial disorders are diseases caused by the dysfunction of mitochondria, crucial for ATP production and energy supply. These conditions can lead to symptoms like muscle weakness, neurological deficits, and can be linked to diabetes and neurodegenerative diseases. Understanding the genetic mutations in both mitochondrial and nuclear DNA is key to grasping the varied clinical manifestations and inheritance patterns of these disorders.
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Mitochondria are organelles responsible for generating most of the cell's supply of ATP, used as a source of chemical energy
Spectrum of Symptoms
Mitochondrial disorders can present with a range of symptoms, from muscle weakness and fatigue to more severe neurological deficits
Associated Health Conditions
Mitochondrial disorders are linked to various other conditions, such as diabetes mellitus, neurodegenerative diseases, and psychiatric disorders
Mitochondrial disorders can arise from mutations in either mitochondrial DNA or nuclear DNA, and can be inherited maternally or occur spontaneously
Due to its proximity to the electron transport chain and lack of protective mechanisms, mitochondrial DNA is prone to mutations
Nuclear DNA encodes the majority of mitochondrial proteins, making it crucial for proper mitochondrial function
Mutations in mitochondrial and nuclear DNA can lead to diverse clinical phenotypes and impact cellular energy production
Mitochondrial dysfunction can contribute to the development of metabolic disorders, such as insulin resistance and type 2 diabetes
Mitochondrial dysfunction can affect cellular signaling pathways and contribute to the progression of degenerative diseases
Mitochondrial function is essential for the body's energy production and metabolism, particularly in organs with high energy demands
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Primary function of mitochondria in cells
Generate most of the cell's ATP, a molecule used for energy.
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Common systems affected by mitochondrial disorders
Nervous system, muscles, heart due to high energy demands.
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Examples of mitochondrial disorders
Mitochondrial myopathy, LHON, Leigh syndrome, MELAS syndrome.
