Function impairment of CLN8 protein (coded by CLN8gene) causes the lysosomal storage disorder - NCL8. Lysosomes are one of many organelles in each cell. Their primary function is the degradation of some waste substances produced by cells. This is a pretty complicated process, and CLN8 protein takes part in it. When a mutation in both copies of the CLN8 gene occurs, CLN8 protein losses its properties, and thus lysosomes cannot work correctly. In the end, this causes progressive death of cells. In NCL8, the most affected are brain cells.
Most known mutations occur in a specific part of the CLN8gene called the TLC domain. Currently, researchers do not know why some mutations are causing distinct subtypes of NCL8 to manifest. However, after clinical evaluation and genetic testing for CLN8mutations, diagnosis can be made in most cases.
CLN8