Ad
related to: genetic testing for tuberous sclerosis mayo clinic
Search results
Results From The WOW.Com Content Network
Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin.
Similarly, genetic testing can produce false negatives. For example, genetic testing is positive in only 75-90% of cases of tuberous sclerosis complex. [77] Thus, clinicians must apply clinical judgement when evaluating an individual suspected to have a neurocutaneous syndrome.
Genetic testing is often done as part of a genetic consultation and as of mid-2008 there were more than 1,200 clinically applicable genetic tests available. [23] Once a person decides to proceed with genetic testing, a medical geneticist, genetic counselor, primary care doctor, or specialist can order the test after obtaining informed consent .
According to the Mayo Clinic. tuberous sclerosis — also called tuberous sclerosis complex (TSC) — is "an uncommon genetic disorder that causes tumors to develop in many parts of the body ...
Defects in this gene can cause tuberous sclerosis, due to a functional impairment of the TSC complex. [citation needed] Defects in TSC1 may also be a cause of focal cortical dysplasia. [citation needed] TSC1 may be involved in protecting brain neurons in the CA3 region of the hippocampus from the effects of stroke. [7]
Tuberous sclerosis proteins 1 and 2, also known as TSC1 (hamartin) and TSC2 (tuberin), form a protein-complex. The encoding two genes are TSC1 and TSC2 . The complex is known as a tumor suppressor.
LAM occurs in two settings: in the disease tuberous sclerosis complex (TSC-LAM) and in a sporadic form, in women who do not have TSC (sporadic LAM). [17] [18] In both settings, genetic evidence indicates that LAM is caused by inactivating or "loss of function" mutations in the TSC1 or TSC2 genes, which were cloned in 1997 and 1993, respectively ...
Pharmacological inhibition of ERK1/2 restores GSK3β activity and protein synthesis levels in a model of tuberous sclerosis. [8]The defective degradation of glycogen by the autophagy-lysosome pathway is, at least in part, independent of impaired regulation of mTORC1 and is restored by the combined use of PKB/Akt and mTORC1 pharmacological inhibitors.