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ITM2B
Integral membrane protein 2B (ITM2B or BRI2) is a protein that in humans is encoded by the ''ITM2B'' gene. ''ITM2B'' or ''BRI2'' is a gene located on chromosome 13. The gene is connected to familial Danish dementia and familial British dementia causing amyloid and pre-filbrillar effects similar to those seen in Alzheimer's Alzheimer's disease (AD) is a neurodegenerative disease that usually starts slowly and progressively worsens. It is the cause of 60–70% of cases of dementia. The most common early symptom is difficulty in remembering recent events. As .... References Further reading * * * * * * * * * * * * * * {{gene-13-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Familial Danish Dementia
Familial Danish Dementia is a rare Neurodegeneration, neurodegenerative disease that is mostly hereditary and resembles Alzheimer's disease, Alzheimer's. The condition was first reported in the Djursland, Djursland peninsula in Denmark. It is one of the two types of hereditary cerebral amyloid angiopathy alongside familial British dementia. The disorder is histopathology, histopathologically characterized by severe cerebral amyloid angiopathy with neurofibrillary tangle deposition in the limbic system and the neocortex. It is also Neuropathology, neuropathologically characterized by diffuse atrophy of cerebellum, cranial nerves, and the spinal cord. Symptoms and signs Symptoms like cataracts, deafness, or ataxia appear before age 40. Cerebellar ataxias appears around age 40. There is also paranoid psychosis and dementia. Which both occur when the patient reaches their fifties. Although paranoid psychosis which typically develops after age 50. Hearing impairments Hearing los ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Familial British Dementia
Familial British dementia is a form of dementia. It was first reported by Cecil Charles Worster-Drought in 1933 and is therefore also known as Worster-Drought syndrome. It is caused by a mutation in the ITM2B gene (also known as BRI2); a different mutation of the same gene causes the similar syndrome of familial Danish dementia. The combination of amyloid pathology and neurofibrillary tangles Neurofibrillary tangles (NFTs) are aggregates of hyperphosphorylated tau protein that are most commonly known as a primary biomarker of Alzheimer's disease. Their presence is also found in numerous other diseases known as tauopathies. Little is ... has led to comparison with the pathology of Alzheimer's disease. References Dementia {{med-diagnostic-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein
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, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called peptides. The individual amino acid residues are bonded together by peptide bonds and adjacent amino acid residues. The sequence of amino acid resid ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a basic unit of heredity and the molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and noncoding genes. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes (many different genes) as well as g ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
