Title of article :
Mitochondrial diseases
Author/Authors :
Caroline Graff، نويسنده , , The-Hung Bui، نويسنده , , Nils-G?ran Larsson، نويسنده ,
Issue Information :
روزنامه با شماره پیاپی سال 2002
Abstract :
Mitochondrial disorders are caused by deficient respiratory chain function, resulting in a complex series of pathophysiological events. Genetic counselling is complicated because the respiratory chain subunits are encoded by both nuclear and mitochondrial DNA genes. Only a minority of the nuclear genes involved in mitochondrial function have been identified, and even fewer are associated with human mitochondrial disease. Mutations in mitochondrial DNA are particularly challenging because of the complexities of mitochondrial genetics: the mitochondrial DNA is strictly maternally inherited; there are 103–104 copies of mitochondrial DNA in somatic cells; affected individuals often have a mixture of normal and mutated mitochondrial DNA (mitochondrial DNA heteroplasmy), the level of mutated mitochondrial DNA (the mitochondrial DNA mutation load) may vary widely between different maternally related individuals, between tissues and with time; a particular minimal threshold of mutated mitochondrial DNA is required to impair respiratory chain function; and there is not always a good correlation between mutant load and phenotype.
Keywords :
prenatal diagnosis , heteroplasmy , Mitochondrial diseases , respiratory chain dysfunction , genetic counselling , mitochondrial DNA mutations , nuclear gene mutations
Journal title :
Best Paractice and Research Clinical Obstetrics and Gynaecology
Journal title :
Best Paractice and Research Clinical Obstetrics and Gynaecology