This report describes neuronal ceroid lipofuscinosis 1 (CLN1), which is a subtype of neuronal ceroid lipofuscinosis; CLN1 exhibits autosomal recessive inheritance. The human gene implicated in this disease is palmitoyl-protein thioesterase 1 (PPT1), which removes long-chain fatty acids from proteins during lysosomal degradation. There is a single fly ortholog, Dmel\Ppt1, for which classical loss-of-function alleles and RNAi-targeting constructs have been generated.
The human PPT1 gene has not been introduced into flies.
Loss-of-function mutations of Dmel\Ppt1 exhibit a reduced lifespan, locomotor defects and neuroanatomy defects. Genetic and physical interactions of Dmel\Ppt1 have been described; see below and in the Ppt1 gene report.
[updated Apr. 2017 by FlyBase; FBrf0222196]
The neuronal ceroid lipofuscinoses (NCLs or CLNs) are a clinically heterogeneous group of neurodegenerative disorders; the general clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005; pubmed:15965709). [from MIM:256730; 2016.01.05]
Individuals with all forms NCL have shortened life expectancy, but it is highly variable, depending upon the form of the disease (from Medscape, http://emedicine.medscape.com/article/1178391-overview; 2016.01.05).
The term Batten disease may refer specifically to the juvenile-onset form, but is also used to refer to any NCL.
[CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1](https://omim.org/entry/256730)
[PALMITOYL-PROTEIN THIOESTERASE 1; PPT1](https://omim.org/entry/600722)
See general description of neuronal ceroid lipofuscinosis, above. Neuronal ceroid lipofuscinosis 1 (CLN1) is most commonly an infantile-onset form of the disease, but some variants show juvenile- or adult-onset. [from MIM:256730; 2016.01.05]
CLN1 is typically inherited as an autosomal recessive and is caused by homozygous or compound heterozygous mutation in the gene encoding palmitoyl-protein thioesterase-1 (PPT1). [from MIM:256730; 2016.01.05]
PPT1 removes thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation (UniProt:P50897; 2016.01.05).
Palmitoyl-protein thioesterase 1 (PPT1) is a small glycoprotein that removes palmitate groups from cysteine residues in lipid-modified proteins. [from MIM:600722; 2016.01.05]
One to one: 1 human to 1 Drosophila (reciprocal best hit).
High-scoring ortholog of human PPT1 (1 Drosophila to 1 human). Dmel\Ppt1 shares 55% identity and 72% similarity with human PPT1.
