What is DEPDC5 gene?

The DEPDC5 gene provides instructions for making a protein that is one piece of a group of proteins (complex) called GATOR1. This complex is found in cells throughout the body, where it regulates a signaling pathway called the mTOR pathway.

What is focal cortical dysplasia?

Focal cortical dysplasia is a congenital abnormality where there is abnormal organization of the layers of the brain and bizarre appearing neurons. There are both genetic and acquired factors that are involved in the development of cortical dysplasia.

Does cortical dysplasia run in families?

This series shows that focal cortical dysplasia can be familial and provides clinical evidence suggesting that cortical dysplasia, hemimegalencephaly, ganglioglioma, and dysembryoplastic neuroepithelial tumors may share common genetic determinants.

Will epilepsy shorten my life?

Reduction in life expectancy can be up to 2 years for people with a diagnosis of idiopathic/cryptogenic epilepsy, and the reduction can be up to 10 years in people with symptomatic epilepsy. Reductions in life expectancy are highest at the time of diagnosis and diminish with time.

What kind of epilepsy can DEPDC5 mutations cause?

DEPDC5 mutations cause familial focal epilepsy with variable foci, an epilepsy syndrome with autosomal dominant inheritance where the affected family members can have different types of focal epilepsies, most frequently frontal lobe epilepsy.

Where is the DEPDC5 gene located in the body?

The DEPDC5 gene provides instructions for making a protein that is one piece of a group of proteins (complex) called GATOR1. This complex is found in cells throughout the body, where it regulates a signaling pathway called the mTOR pathway.

What is the role of DEPDC5 in leiomyomas?

DEPDC5 was discovered as a novel tumor suppressor gene playing a role in the progression of uterine leiomyomas. This study found a single DEPDC5 mutation in one of (2.2%) 45 families with genetic temporal lobe epilepsy, a proportion much lower than that reported in other inherited focal epilepsies.

How does DEPDC5 affect the GATOR1 subcomplex?

DEPDC5 is part of the GATOR1 subcomplex which modulates mTOR activity dependent on the availability of amino acids. Haploinsufficiency of DEPDC5 results in decreased inhibition of mTOR eventually leading to cortical dysplasia in variable locations.