Related Content: Abstract: Efficient tools for profiling DNA methylation in specific genes are essential for epigenetics and clinical diagnostics. Current DNA methylation profiling techniques have been limited by inconvenient implementation, requirements of specific reagents, and ...
Autosomal Trisomy Chromosome Diseases. The 22 non-sex autosome chromosomes (autosomes) can also exhibit disorders, of which the most common is trisomy (having 3 copies rather than a pair). Because these are disorders of the autosomes and not the sex chromosomes, these disorders can occur with males or females.
Mitochondrial disease. Mitochondrial diseases are a group of disorders caused by dysfunctional mitochondria, the organelles that generate energy for the cell. Mitochondria are found in every cell of the human body except red blood cells, and convert the energy of food molecules into the ATP that powers most cell functions. Mitochondrial diseases are sometimes caused by mutations in the mitochondrial DNA that affect mitochondrial function. Other mitochondrial diseases are caused by mutations in genes of the nuclear DNA