| 1E1S | Prion Protein | date | May 10, 2000 |
|---|---|---|---|
| title | Human Prion Protein Variant S170n | ||
| authors | L.Calzolai, D.A.Lysek, P.Guntert, C.Von Schroetter, R.Zahn, R.Riek, K.Wuthrich | ||
| compound | source | ||
| Molecule: Prion Protein Chain: A Fragment: Globular Domain 125-228 Engineered: Yes Mutation: Yes |
Organism_scientific: Homo Sapiens Organism_common: Human Expression_system: Escherichia Coli | ||
| method | NMR, Regularized Mean Structure | ||
| related structures | by homologous chain: 1E1P, 1E1U | ||
| similarity | Belongs to the prion family. | ||
| subunit | Prp has a tendency to aggregate yielding polymers called "rods". | ||
| polymorphism | Insertions or deletions of octapeptide repeat units are associated to prion disease. The five tandem octapeptide repeats region is highly unstable. | ||
| post-translat. modifications | The glycosylation pattern (the amount of mono-, di- and non- glycosylated forms or glycoforms) seems to differ in normal and cjd prion. | ||
| subcellular loc. | Attached to the membrane by a gpi-anchor. | ||
| gene | PRNP (H. sapiens) | ||
| function | The physiological function of prp is not known. | ||
| disease | Creutzfeldt-Jakob disease Gerstmann-Straussler disease Huntington disease-like 1 Insomnia,fatal familial Prion disease with protracted course Gss incidence is less than 2 per 100 million. The triad of microscopic features that characterize the prion diseases consists of (1) spongiform degeneration of neurons, (2) severe astrocytic gliosis that often appears to be out of proportion to the degree of nerf cell loss, and (3) amyloid plaque formation. Patients exhibit various movement disorders like cerebellar abnormalities, rigidity of the limbs, and clonus. Ffi is an autosomal dominant disorder and is characterized by neuronal degeneration limited to selected thalamic nuclei and progressive insomnia. Epidemiologic studies have failed to implicate the ingestion of infected annimal meat in the pathogenesis of cjd in human. Tme, cwd, bse, fse, eue are all thought to occur after consumption of prion-infected foodstuffs. Defects in prnp are the cause of kuru. The prion diseases illustrate three manifestations of cns degeneration: (1) infectious (2) sporadic and (3) dominantly inherited forms. Defects in prnp are the cause of gerstmann-straussler syndrome (gss). Kuru is transmitted during ritualistic cannibalism, among natives of the new guinea highlands. Prp is found in high quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: creutzfeldt-jakob disease (cjd), fatal familial insomnia (ffi), gerstmann-straussler syndrome (gss), huntington disease-like 1 (hdl1) and kuru in humans; scrapie in sheep and goat; bovine spongiform encephalopathy (bse) in cattle; transmissible mink encephalopathy (tme); chronic wasting disease (cwd) of mule deer and elk; feline spongiform encephalopathy (fse) in cats and exotic ungulate encephalopathy (eue) in nyala and greater kudu. Some patients present sleep disorders, abnormalities of high cortical function, cerebellar and corticospinal disturbances. Cjd occurs primarily as a sporadic disorder (1 per million), while 10-15% are familial. Emotional lability is present, and dementia is conspicuously absent. Gss is a heterogeneous disorder and was defined as a spinocerebellar ataxia with dementia and plaquelike deposits. Accidental transmission of cjd to humans appears to be iatrogenic (contaminated human growth hormone (hgh), corneal transplantation, electroencephalographic electrode implantation, etc.). Death usually occurs from 3 to 12 month after onset. Defects in prnp are the cause of huntington disease-like 1 (hdl1). Cjd is characterized by progressive dementia and myoclonic seizures, affecting adults in mid-life. Defects in prnp are the cause of fatal familial insomnia (ffi). The disease ends in death after a 3-12 months illness. Hdl1 is an autosomal dominant, early onset neurodegenerative disorder with prominent psychiatric features. | ||
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