User:BiochemS258/Gerstmann–Sträussler–Scheinker syndrome

Symptoms:

Causes:

Attempt to find the citation where codon 102 on Chromosome 20 is mutated to create the Prion Protein Gene.

Edits to be made:

GSS is part of a group of diseases called transmissible spongiform encephalopathies. These diseases are caused by prions, which are a class of pathogenic proteins that are resistant to proteases. These prions then form clusters in the brain, which are responsible for the neurodegenerative effects seen in patients.

The P102L mutation, which causes a substitution of proline to a leucine in codon 102, has been found in the prion protein gene (PRNP, on chromosome 20) of most affected individuals. Therefore, it appears this genetic change is usually required for the development of the disease.

"Characterization of Anchorless Human PrP With Q227X Stop Mutation Linked to Gerstmann-Sträussler-Scheinker Syndrome In Vivo and In Vitro"

Diagnosis:

Find the source for increased risk of offspring inheriting GSS. Find specific test used to determine if a patient has GSS.

Treatment:

Find articles on PRN100 monoclonal antibody to source. Elaborate on more potential therapies.

Prognosis:

Expand on duration, and what happens to those afflicted.

From "ninds.nih.gov"

"Slowly Progressive disease that can last from 2-10 years"

"Ultimately results in death upon appearance, usually due to a coma or secondary infection caused by the patient's gradual loss of bodily functions"

Original: "Duration of illness can range from three months to 13 years with an average duration of five or six years."

Prognosis Expansion:

GSS is a disease that progresses slowly, lasting roughly 2-10 years, with an average of approximately 5 years. The disease ultimately results in death, most commonly from the patient either going into a coma, or a secondary infection due to the patient's loss of bodily functions.

Research:

Change numbering of reasons for why GSS is difficult to track

Move all sources in text to resources at the bottom

In-text citations:

"It is hard to discover GSS, as the disease has been reported in only a few countries; and it may be underreported due to its clinical similarity to other diseases^1"

"The Indiana Kindred is the largest, spanning over 8 generations, and includes over 3,000 people with 57 individuals known to be affected^2"

"In 1989, the first mutation of the prion protein gene was identified in a GSS family^3"

"Prion diseases (transmissible spongiform encephalopathies) are degenerative diseases of the brain thought to be caused by a protein that converts to an abnormal form called a prion^4,5"

Rephrasing/Addition to Research:

Prion diseases, also called transmissible spongiform encephalopathies, are neurodegenerative diseases of the brain thought to be caused by a protein that converts to an abnormal form called a prion^4,5. GSS, in particular, is very rare, making its history hard to track exactly where it descended from. It is also hard to discover patients afflicted with GSS, as the disease has been underreported due to its clinical similarity to other diseases, and has been found in only a few countries [10]. In 1989, the first mutation of the prion protein gene was identified in a GSS family (Elsevier Science, 2002). The largest of these families affected by GSS is the Indiana Kindred, spanning over 8 generations, and includes over 3,000 people with 57 individuals known to be affected [11]. GSS was later realized to have many different gene mutation types, with some showing different symptoms first or having other symptoms worse than others. Doctors in different parts of the world are uncovering more generations and families that have the mutation.

Sources: 1. Ghetti, B., et al. (2003) "Hereditary prion protein amyloidoses". Clinics in Laboratory Medicine 23. 65-85. DOI:10.1016/s0272-2712(02)00064-1 2. Ghetti, B., et al. (1996) "Prion protein amyloidosis" Brain Pathology 6(2). 127-145. DOI: 10.1111/j.1750-3639.1996.tb00796.x 3. Hsiao, K., et al. (1989). "Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome" Nature, 338(6213), 342–345. DOI: https://doi.org/10.1038/338342a0 4. Zou, W-Q., et al (2013). "Prions in Variably Protease-Sensitive Prionopathy: An Update" Pathogens 2, 457-471. DOI: 10.3390/pathogens2030457 5. Gambetti, P. (2013). "Creationism and Evolutionism in Prions" American Journal of Pathology 182(3), 623-627. DOI: 10.1016/j.ajpath.2012.12.016

Sources to use for additional information: https://link.springer.com/content/pdf/10.1007/s12035-020-02098-8.pdf https://actaneurocomms.biomedcentral.com/track/pdf/10.1186/s40478-019-0734-2.pdf

Used Pubmed, Web of Science, Embase