Premium
RNAi knockdown of CLN3P gives clues to it's function (738.2)
Author(s) -
Dorminey Katherine,
Hinderer Eugene,
Krzysiak Amanda
Publication year - 2014
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.28.1_supplement.738.2
Subject(s) - batten disease , autophagy , gene knockdown , lysosome , lipofuscin , microbiology and biotechnology , transmembrane protein , biology , disease , lysosomal storage disease , mutant , genetics , gene , medicine , biochemistry , receptor , apoptosis , enzyme
Batten disease is a fatal neurodegenerative disease affecting children between the ages of five and ten years with an incidence of 2 to 4:100 000 live births in the United States and Canada. It is a type of lysosomal storage disease that causes an accumulation of lipofuscin in neuronal cells eventually leading to cellular degradation by normal physiological factors. The cause of Batten disease has been determined to be a 1.02 kb genomic deletion that mutates a gene known as CLN3, producing a mutant protein responsible for the pathology. The function this CLN3 protein has not been determined, although it has been predicted to be a transmembrane protein involved with lysosome trafficking. To aid future investigations pertaining to the pathology of Batten disease and in the development of therapies, we investigated the normal function of CLN3. Knockdown of CLN3 in HeLa cells was used to determine its role in autophagy. We determined that CLN3 has a role in cellular autophagy.