Families

Mitochondrial Disorders:
Mitochondria are the powerhouses of the cell. Their job is to provide sufficient energy to fulfil a cell’s function. Having a mitochondrial disorder is like a permanent brown out. Systems work but intermittently and sometimes not at all. In fact, some systems become so devoid of energy that they begin to show signs of failure. The SDHA gene provides instruction for one piece of the powerhouse and a defect in SDHAtherefore results in a reduced energy production and mainly neurological and muscle tissue are affected as the brain, eyes and muscle.

The diagnosis of SDHA-related syndrome is confirmed by performing genetic testing in an affected individual, which enables the detection of a disease-causing change in the SDHA-gene.

Tumorigenesis:
The SDHAgene is also a tumor suppressor gene, which means it prevents cells from growing and dividing in an uncontrolled way.