Abstract 2109 Identification of genomic elements regulating the expression of YHC3; the yeast homolog of the Batten disease causing gene, CLN3

Juvenile neuronal ceroid lipofuscinosis (JNCL, Batten disease) is the most common form of neuronal ceroid lipofuscinoses (NCLs). The NCLs are autosomal recessive neurodegenerative lysosomal storage disorders characterized by the lysosomal accumulation of autofluorescent lipofuscins. JNCL is caused by mutations in the CLN3 gene, which encodes an endo/lysosomal transmembrane protein. Symptoms typically begin in children between ages 4 and 8, starting with vision loss, followed by seizures, and progressing to cognitive and motor decline, ultimately leading to premature death in the second or third decade of life.