Inherited disorders of trafficking

Inherited disorders of trafficking (IDT) are a family of disorders that involve vesicular delivery of proteins.^[1]

They were characterized in 1975.^[2]

CEDNIK Syndrome

CEDNIK syndrome (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 SNAP29; SNAP29 is a member of the SNAP Receptor (SNARE) protein family.^[3] 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.^[4] 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.^[3] SNAP29 is necessary for proper epidermal differentiation.^[3] Mutations in SNAP29 result in problems with molecular trafficking and transport, and leads to CEDNIK syndrome.

References

↑ Gissen, P.; Maher, E. R (2007). "Cargos and genes: insights into vesicular transport from inherited human disease". Journal of Medical Genetics. 44 (9): 545–55. doi:10.1136/jmg.2007.050294. PMC 2597945. PMID 17526798.
↑ Palade, G (1975). "Intracellular aspects of the process of protein synthesis". Science. 189 (4200): 347–58. Bibcode:1975Sci...189..347P. doi:10.1126/science.1096303. PMID 1096303.
1 2 3 Fuchs-Telem, D.; Stewart, H.; Rapaport, D.; Nousbeck, J.; Gat, A.; Gini, M.; Lugassy, Y.; Emmert, S.; Eckl, K.; Hennies, H.C.; Sarig, O.; Goldsher, D.; Meilik, B.; Ishida-Yamamoto, A.; Horowitz, M.; Sprecher, E. (2011). "CEDNIK syndrome results from loss-of-function mutations in SNAP29". British Journal of Dermatology. 164 (3): 610–6. doi:10.1111/j.1365-2133.2010.10133.x. PMID 21073448.
↑ 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.

Inherited disorders of trafficking / vesicular transport proteins

Vesicle formation

Lysosome/Melanosome:	HPS1-HPS7 Hermansky–Pudlak syndrome LYST Chédiak–Higashi syndrome

COPII:	SEC23A Cranio–lenticulo–sutural dysplasia

COG7 CDOG IIE

APC:	AP1S2 X-linked intellectual disability AP3B1 Hermansky–Pudlak syndrome 2 AP4M1 CPSQ3

Rab

ARL6 BBS3

RAB27A Griscelli syndrome 2

CHM Choroideremia MLPH Griscelli syndrome 3

Cytoskeleton

Myosin:	MYO5A Griscelli syndrome 1

Microtubule:	SPG4 Hereditary spastic paraplegia 4

Kinesin:	KIF5A Hereditary spastic paraplegia 10

Spectrin:	SPTBN2 Spinocerebellar ataxia 5

Vesicle fusion

Synaptic vesicle:	SNAP29 CEDNIK syndrome STX11 Hemophagocytic lymphohistiocytosis 4

Caveolae:	CAV1 Congenital generalized lipodystrophy 3 CAV3 Limb-girdle muscular dystrophy 2B, Long QT syndrome 9

Vacuolar protein sorting:	VPS33B ARC syndrome VPS13B Cohen syndrome

DYSF Distal muscular dystrophy

See also vesicular transport proteins

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