Ceroid-lipofuscinosis neuronal protein 5 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''CLN5''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
The
neuronal ceroid lipofuscinoses (CLN or NCL) are a group of
autosomal recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The firs ...
, progressive
encephalopathies
Encephalopathy (; ) means any disorder or disease of the brain, especially chronic degenerative conditions. In modern usage, encephalopathy does not refer to a single disease, but rather to a syndrome of overall brain dysfunction; this syndrome ...
in children. They are characterized by psychomotor deterioration, visual failure, and the accumulation of autofluorescent lipopigment in
neurons
A neuron (American English), neurone (British English), or nerve cell, is an membrane potential#Cell excitability, excitable cell (biology), cell that fires electric signals called action potentials across a neural network (biology), neural net ...
and other cell types. The main childhood forms are the infantile type (
Santavuori-Haltia disease; MIM 256730), the late infantile type (
Jansky–Bielschowsky disease; MIM 204500), and the juvenile type (
Batten disease; MIM 204200) based on the age of onset, clinical course, neurologic and ophthalmologic findings, and ultrastructural analysis (Carpenter et al., 1977
ubMed 193610.
upplied by OMIMref name="entrez"/>
A human clinical trial of gene therapy for the CLN5 form of Batten disease began in 2022 through the
University of Rochester
The University of Rochester is a private university, private research university in Rochester, New York, United States. It was founded in 1850 and moved into its current campus, next to the Genesee River in 1930. With approximately 30,000 full ...
, using vectors developed by the
Hughes research lab in New Zealand.
References
Further reading
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External links
GeneReviews/NCBI/NIH/UW entry on Neuronal Ceroid-Lipofuscinoses*
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