HuntingtinHuntingtin (Htt) is the protein coded for in humans by the HTT gene, also known as the IT15 ("interesting transcript 15") gene. Mutated HTT is the cause of Huntington's disease (HD), and has been investigated for this role and also for its involvement in long-term memory storage. It is variable in its structure, as the many polymorphisms of the gene can lead to variable numbers of glutamine residues present in the protein. In its wild-type (normal) form, the polymorphic locus contains 6-35 glutamine residues.
Huntington's diseaseHuntington's disease (HD), also known as Huntington's chorea, is an incurable neurodegenerative disease that is mostly inherited. The earliest symptoms are often subtle problems with mood or mental/ psychiatric abilities. A general lack of coordination and an unsteady gait often follow. It is also a basal ganglia disease causing a hyperkinetic movement disorder known as chorea. As the disease advances, uncoordinated, involuntary body movements of chorea become more apparent.
Quadratic residueIn number theory, an integer q is called a quadratic residue modulo n if it is congruent to a perfect square modulo n; i.e., if there exists an integer x such that: Otherwise, q is called a quadratic nonresidue modulo n. Originally an abstract mathematical concept from the branch of number theory known as modular arithmetic, quadratic residues are now used in applications ranging from acoustical engineering to cryptography and the factoring of large numbers.
Euler's criterionIn number theory, Euler's criterion is a formula for determining whether an integer is a quadratic residue modulo a prime. Precisely, Let p be an odd prime and a be an integer coprime to p. Then Euler's criterion can be concisely reformulated using the Legendre symbol: The criterion first appeared in a 1748 paper by Leonhard Euler. The proof uses the fact that the residue classes modulo a prime number are a field. See the article prime field for more details.
Polyglutamine tractA polyglutamine tract or polyQ tract is a portion of a protein consisting of a sequence of several glutamine units. A tract typically consists of about 10 to a few hundred such units. A multitude of genes, in various eukaryotic species (including humans), contain a number of repetitions of the nucleotide triplet CAG or CAA. When the gene is translated into a protein, each of these triplets gives rise to a glutamine unit, resulting in a polyglutamine tract.
Neurodegenerative diseaseA neurodegenerative disease is caused by the progressive loss of structure or function of neurons, in the process known as neurodegeneration. Such neuronal damage may ultimately involve cell death. Neurodegenerative diseases include amyotrophic lateral sclerosis, multiple sclerosis, Parkinson's disease, Alzheimer's disease, Huntington's disease, multiple system atrophy, and prion diseases. Neurodegeneration can be found in the brain at many different levels of neuronal circuitry, ranging from molecular to systemic.
Scaffold proteinIn biology, scaffold proteins are crucial regulators of many key signalling pathways. Although scaffolds are not strictly defined in function, they are known to interact and/or bind with multiple members of a signalling pathway, tethering them into complexes. In such pathways, they regulate signal transduction and help localize pathway components (organized in complexes) to specific areas of the cell such as the plasma membrane, the cytoplasm, the nucleus, the Golgi, endosomes, and the mitochondria.
Legendre symbolIn number theory, the Legendre symbol is a multiplicative function with values 1, −1, 0 that is a quadratic character modulo of an odd prime number p: its value at a (nonzero) quadratic residue mod p is 1 and at a non-quadratic residue (non-residue) is −1. Its value at zero is 0. The Legendre symbol was introduced by Adrien-Marie Legendre in 1798 in the course of his attempts at proving the law of quadratic reciprocity. Generalizations of the symbol include the Jacobi symbol and Dirichlet characters of higher order.
Post-translational modificationPost-translational modification (PTM) is the covalent process of changing proteins following protein biosynthesis. PTMs may involve enzymes or occur spontaneously. Proteins are created by ribosomes translating mRNA into polypeptide chains, which may then change to form the mature protein product. PTMs are important components in cell signalling, as for example when prohormones are converted to hormones. Post-translational modifications can occur on the amino acid side chains or at the protein's C- or N- termini.
Gene silencingGene silencing is the regulation of gene expression in a cell to prevent the expression of a certain gene. Gene silencing can occur during either transcription or translation and is often used in research. In particular, methods used to silence genes are being increasingly used to produce therapeutics to combat cancer and other diseases, such as infectious diseases and neurodegenerative disorders. Gene silencing is often considered the same as gene knockdown. When genes are silenced, their expression is reduced.
