Genetic Test
The MFSD8 (Major Facilitator Superfamily Domain Containing 8) gene encodes a membrane-bound protein that is believed to function as a transporter within the lysosomal membrane.
This protein is thought to play a role in moving molecules across the lysosomal membrane, which is essential for normal lysosomal function and cellular waste processing.
Mutations in the MFSD8 gene have been linked to neuronal ceroid lipofuscinosis type 7 (NCL7), a progressive neurodegenerative disorder characterized by the accumulation of lipofuscin in nerve cells.
This genetic test targets a specific MFSD8 mutation associated with NCL7.
Disease Description
Neuronal ceroid lipofuscinosis (NCL) is a progressive neurodegenerative disorder caused by defects in lysosomal enzymes required for the normal breakdown of lipofuscin, a waste product composed of lipid and protein residues.
When these enzymes are deficient or non-functional, lipofuscin accumulates excessively within neurons as well as in organs such as the liver, spleen, and kidneys.
This buildup leads to widespread neuronal loss, cortical atrophy, and degeneration of the cerebellum and retina , resulting in clinical signs such as seizures, progressive motor dysfunction, and cognitive decline.
