Inherited disorders of trafficking (IDT) are a family of disorders that involve
vesicular delivery of
proteins
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, re ...
.
They were characterized in 1975.
CEDNIK syndrome
Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome is a neurocutaneous condition caused by mutation in the SNAP29 gene.
Presentation
CEDNIK syndrome is a rare congenital condition that presents as severe developmental failure ...
(Cerebral Dysgenesis, Neuropathy, Ichthyosis and Keratoderma Syndrome) is a rare inherited genetic skin condition (
Genodermatosis) which has been associated with a loss-of-function
mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, ...
in
SNAP29
Synaptosomal-associated protein 29 is a protein that in humans is encoded by the ''SNAP29'' 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 ...
; SNAP29 is a member of the
SNAP Receptor (SNARE) protein family.
SNARE proteins assist with vesicle trafficking and are responsible for the fusion events between the membranes of vesicles and the membranes of their targets. There are two types of SNARE proteins, v-SNARE's which are located on vesicle membranes, and t-SNARE's that are located on target membranes.
[Lodish, H., Berk, A., Kaiser, C., Krieger, M., Bretscher, A., Ploegh, H., & Amon, A. (2013). ''Molecular Cell Biology'' (7th ed.). New York, NY: W. H. Freeman and Company.] SNAP29 is a t-SNARE, and as a t-SNARE, this protein must form a complex with v-SNARE's for fusion of vesicles and secretion of their load to occur. A mutation/deficiency in this protein which occurs in patients with CEDNIK syndrome results in an impaired maturation and secretion of
lamellar granules—these are vesicular structures derived from the
Golgi.
SNAP29 is necessary for proper epidermal differentiation.
Mutations in SNAP29 result in problems with molecular trafficking and transport, and leads to
CEDNIK syndrome
Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome is a neurocutaneous condition caused by mutation in the SNAP29 gene.
Presentation
CEDNIK syndrome is a rare congenital condition that presents as severe developmental failure ...
.
References
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