Creutzfeldt–Jakob disease (CJD), also known as subacute spongiform encephalopathy or neurocognitive disorder due to prion disease, is an invariably fatal degenerative brain disorder. Early symptoms include memory problems, behavioral changes, poor coordination, and visual disturbances. Later symptoms include dementia, involuntary movements, blindness, weakness, and coma. About 70% of people die within a year of diagnosis. The name Creutzfeldt–Jakob disease was introduced by Walther Spielmeyer in 1922, after the German neurologists Hans Gerhard Creutzfeldt and Alfons Maria Jakob.
Prions are misfolded proteins that have the ability to transmit their misfolded shape onto normal variants of the same protein. They characterize several fatal and transmissible neurodegenerative diseases in humans and many other animals. It is not known what causes a normal protein to misfold, but the resulting abnormal three-dimensional structure confers infectious properties by collapsing nearby protein molecules into the same shape.
Proteomics is the large-scale study of proteins. Proteins are vital parts of living organisms, with many functions such as the formation of structural fibers of muscle tissue, enzymatic digestion of food, or synthesis and replication of DNA. In addition, other kinds of proteins include antibodies that protect an organism from infection, and hormones that send important signals throughout the body.
Scrapie is a fatal, degenerative disease affecting the nervous systems of sheep and goats. It is one of several transmissible spongiform encephalopathies (TSEs), and as such it is thought to be caused by a prion. Scrapie has been known since at least 1732 and does not appear to be transmissible to humans. However, new studies suggest a link between scrapie and sporadic CJD.
Transmissible spongiform encephalopathies (TSEs) are a group of progressive and fatal conditions that are associated with prions and affect the brain and nervous system of many animals, including humans, cattle, and sheep. According to the most widespread hypothesis, they are transmitted by prions, though some other data suggest an involvement of a Spiroplasma infection. Mental and physical abilities deteriorate and many tiny holes appear in the cortex causing it to appear like a sponge when brain tissue obtained at autopsy is examined under a microscope. The disorders cause impairment of brain function, including memory changes, personality changes and problems with movement that worsen chronically.
Gerstmann–Sträussler–Scheinker syndrome (GSS) is an extremely rare, usually familial, fatal neurodegenerative disease that affects patients from 20 to 60 years in age. It is exclusively heritable, and is found in only a few families all over the world. It is, however, classified with the transmissible spongiform encephalopathies (TSE) due to the causative role played by PRNP, the human prion protein. GSS was first reported by the Austrian physicians Josef Gerstmann, Ernst Sträussler and Ilya Scheinker in 1936.
Transmissible mink encephalopathy (TME) is a rare sporadic disease that affects the central nervous system of ranch-raised adult mink. It is a transmissible spongiform encephalopathy, caused by proteins called prions.
PRNP is the human gene encoding for the major prion protein PrP, also known as CD230. Expression of the protein is most predominant in the nervous system but occurs in many other tissues throughout the body.
Stable Isotope Labeling by/with Amino acids in Cell culture (SILAC) is a technique based on mass spectrometry that detects differences in protein abundance among samples using non-radioactive isotopic labeling. It is a popular method for quantitative proteomics.
Matthias Mann is a scientist in the area of mass spectrometry and proteomics.
Laura Manuelidis is a physician and neuropathologist at Yale University.
Abgent is a global biotechnology company based in San Diego, California, US with offices in Maidenhead, UK and Suzhou, China and distributors around the world. Abgent develops antibodies and related agents to study proteins involved in cellular function and disease. Abgent's antibodies target key areas of research including autophagy, neuroscience, cancer, stem cells and more. Abgent was acquired in 2011 by WuXi AppTec, a global pharmaceutical, biopharmaceutical, and medical device outsourcing company with operations in China and the United States.
John Mark Purdey was an English organic farmer who came to public attention in the 1980s, when he began to circulate his own theories regarding the causes of bovine spongiform encephalopathy.
Variant Creutzfeldt–Jakob disease (vCJD), commonly referred to as "mad cow disease", is a type of brain disease within the transmissible spongiform encephalopathy family. Initial symptoms include psychiatric problems, behavioral changes, and painful sensations. In the later stages of the illness, patients may exhibit poor coordination, dementia and involuntary movements. The length of time between exposure and the development of symptoms is unclear, but is believed to be years to decades. Average life expectancy following the onset of symptoms is 13 months.
Quantitative proteomics is an analytical chemistry technique for determining the amount of proteins in a sample. The methods for protein identification are identical to those used in general proteomics, but include quantification as an additional dimension. Rather than just providing lists of proteins identified in a certain sample, quantitative proteomics yields information about the physiological differences between two biological samples. For example, this approach can be used to compare samples from healthy and diseased patients. Quantitative proteomics is mainly performed by two-dimensional gel electrophoresis (2-DE) or mass spectrometry (MS). However, a recent developed method of quantitative dot blot (QDB) analysis is able to measure both the absolute and relative quantity of an individual proteins in the sample in high throughput format, thus open a new direction for proteomic research. In contrast to 2-DE, which requires MS for the downstream protein identification, MS technology can identify and quantify the changes.
Bovine spongiform encephalopathy (BSE), commonly known as mad cow disease, is an incurable and inevitably fatal neurodegenerative disease of cattle. Symptoms include abnormal behavior, trouble walking, and weight loss. Later in the course of the disease the cow becomes unable to function normally. The time between infection and onset of symptoms is generally four to five years. Time from onset of symptoms to death is generally weeks to months. Spread to humans is believed to result in variant Creutzfeldt–Jakob disease (vCJD). As of 2018, a total of 231 cases of vCJD had been reported globally.
Surround optical-fiber immunoassay (SOFIA) is an ultrasensitive, in vitro diagnostic platform incorporating a surround optical-fiber assembly that captures fluorescence emissions from an entire sample. The technology's defining characteristics are its extremely high limit of detection, sensitivity, and dynamic range. SOFIA's sensitivity is measured at the attogram level (10−18 g), making it about one billion times more sensitive than conventional diagnostic techniques. Based on its enhanced dynamic range, SOFIA is able to discriminate levels of analyte in a sample over 10 orders of magnitude, facilitating accurate titering.
Rosalind Ridley is a British psychologist and researcher who was head of the Medical Research Council Comparative Cognition Research Team in the Department of Psychology, Cambridge, UK, until 2005. She was a fellow of Newnham College, Cambridge from 1995–2010 and Vice-Principal from 2000–2005. She holds the privileges of a Fellow Emerita at Newnham College.
Frank O. Bastian is an American medical doctor and neuropathologist, who previously worked at Louisiana State University, moved to a university in New Orleans in 2019. He specializes in the transmissible spongiform encephalopathies (TSEs), which include, but are not limited to, Bovine spongiform encephalopathy (BSE) "Mad cow disease" in cattle, scrapie in sheep and goats, and Creutzfeldt–Jakob disease (CJD) in humans.
The United Kingdom was afflicted with an outbreak of Bovine spongiform encephalopathy, and its human equivalent variant Creutzfeldt–Jakob disease (vCJD), in the 1980s and 1990s. Over four million head of cattle were slaughtered in an effort to contain the outbreak, and 178 people died after contracting vCJD through eating infected beef. A political and public health crisis resulted, and British beef was banned from export to numerous countries around the world, with some bans remaining in place until as late as 2019.
