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Mitochondrial Genetics
Foundations of Biomedical Science 1
King's College London
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The genetics of mitochondrial inheritance and variation
Mitochondrial DNA Circular, contains genes coding for protein of the OXPHOS chain Each mitochondria contains multiple copies of DNA Inherited solely from the mother 13 Polypeptides 22 Transfer RNAs 2 Ribosomal RNAs
Nuclear Derived Proteins Form part of the OXPHOS chain Provides proteins for replication and repair of the mitochondrial genome Control transcription and processing of mitochondrial genome Involved in translation Both nuclear and mitochondrial genomes interact and are essential for cellular energy production
Mitochondrial Disorders: the interplay between nuclear and mitochondrial
genomes
Mitochondrial Disease Can have both nuclear and mitochondrial origins More present in tissues with high energy demand
General Features Respiratory chain deficiency Leads to reduction in cellular oxygen consumption and ATP synthesis Often increased lactic acid build up in blood and cerebral fluid Sometimes ATP production not affected, instead there is an overproduction of reactive oxy species May manifest in multiple systems and tissues, more likely to influence tissues with higher e demands
Causes of Mitochondrial Disorders Nuclear Origin
Mitochondrial Genetics
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refer to a position in the genome) Heteroplasmy - Genetic variation across an individual, can be inherited, or arise de novo (o variation at position)
Mitochondrial Disorders
Mitochondrial Genetics
Module: Foundations of Biomedical Science 1
University: King's College London
