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Hereditary Sensory Neuropathy
Hereditary sensory and autonomic neuropathy (HSAN) or hereditary sensory neuropathy (HSN) is a condition used to describe any of the types of this disease which inhibit sensation. They are less common than Charcot-Marie-Tooth disease. Classification Eight different clinical entities have been described under hereditary sensory and autonomic neuropathies – all characterized by progressive loss of function that predominantly affects the peripheral sensory nerves. Their incidence has been estimated to be about 1 in 250,000. Type 1 Hereditary sensory neuropathy type 1 is a condition characterized by nerve abnormalities in the legs and feet (peripheral neuropathy). Many people with this condition have tingling, weakness, and a reduced ability to feel pain and sense hot and cold. Some affected individuals do not lose sensation, but instead feel shooting pains in their legs and feet. As the disorder progresses, the sensory abnormalities can affect the hands, arms, shoulders, and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
RAB7A
Ras-related protein Rab-7a is a protein that in humans is encoded by the ''RAB7A'' gene. Ras-related protein Rab-7a is involved in endocytosis, which is a process that brings substances into a cell. The process of endocytosis works by folding the cell membrane around a substance outside of the cell (for example a protein) and then forms a Vesicle (biology and chemistry), vesicle. The vesicle is then brought into the cell and cleaved from the cell membrane. RAB7A plays an important role in the movement of vesicles into the cell as well as with vesicle trafficking. Various mutations of RAB7A are associated with HSAN Type I, Hereditary sensory neuropathy type 1C (HSN IC), also known as Charcot-Marie-Tooth disease, Charcot-Marie-Tooth syndrome type 2B (CMT2B). Function Members of the Rab (G-protein), RAB family of RAS-related GTP-binding proteins are important regulators of vesicular transport and are located in specific intracellular compartments. RAB7 has been localized to lat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Peripheral Nervous System Disorders
A peripheral device, or simply peripheral, is an auxiliary hardware device that a computer uses to transfer information externally. A peripheral is a hardware component that is accessible to and controlled by a computer but is not a core component of the computer. A peripheral can be categorized based on the direction in which information flows relative to the computer: * The computer receives data from an ''input device''; examples: mouse, keyboard, scanner, game controller, microphone and webcam * The computer sends data to an ''output device''; examples: monitor, printer, headphones, and speakers * The computer sends and receives data via an ''input/output device''; examples: storage device (such as disk drive, solid-state drive, USB flash drive, memory card and tape drive), modem, router, gateway and network adapter Many modern electronic devices, such as Internet-enabled digital watches, video game consoles, smartphones, and tablet computers, have interfaces for u ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NGFB
Nerve growth factor (NGF) is a neurotrophic factor and neuropeptide primarily involved in the regulation of growth, maintenance, proliferation, and survival of certain target neurons. It is perhaps the prototypical growth factor, in that it was one of the first to be described. Since it was first isolated by Nobel laureates Rita Levi-Montalcini and Stanley Cohen in 1954, numerous biological processes involving NGF have been identified, two of them being the survival of pancreatic beta cells and the regulation of the immune system. Structure NGF is initially in a 7S, 130- kDa complex of 3 proteins – Alpha-NGF, Beta-NGF, and Gamma-NGF (2:1:2 ratio) when expressed. This form of NGF is also referred to as proNGF (NGF precursor). The gamma subunit of this complex acts as a serine protease, and cleaves the N-terminal of the beta subunit, thereby activating the protein into functional NGF. The term ''nerve growth factor'' usually refers to the 2.5S, 26-kDa beta subunit of the prote ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NTRK1
Tropomyosin receptor kinase A (TrkA), also known as high affinity nerve growth factor receptor, neurotrophic tyrosine kinase receptor type 1, or TRK1-transforming tyrosine kinase protein is a protein that in humans is encoded by the ''NTRK1'' gene. This gene encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself (autophosphorylation) and members of the MAPK pathway. The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations in this gene have been associated with congenital insensitivity to pain with anhidrosis, self-mutilating behaviors, intellectual disability and/or cognitive impairment and certain cancers. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date. Function and Interaction with NGF TrkA is the high affinity catalyt ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Insensitivity To Pain With Anhidrosis
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder of the nervous system which prevents the feeling of pain or temperature and prevents a person from sweating. Cognitive disorders are commonly coincidental. CIPA is the fourth type of hereditary sensory and autonomic neuropathy (HSAN), and is also known as HSAN IV. Signs and symptoms Signs of CIPA are present from infancy. Infants may present with seizures related to an abnormally high body temperature. Since people with this condition are unable to sweat, they are unable to properly regulate their body temperature. Those affected are unable to feel pain and temperature. The absence of pain experienced by people with CIPA puts them at high risk for accidental self-injury. Corneal ulceration occurs due to a lack of protective impulses. Joint and bone problems are common due to repeated injuries, and wounds heal poorly. Delayed developmental milestones in early years may be observed. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
IKBKAP
IKBKAP (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein) is a human gene encoding the IKAP protein, which is ubiquitously expressed at varying levels in all tissue types, including brain cells. The IKAP protein is thought to participate as a sub-unit in the assembly of a six-protein putative human holo-Elongator complex, which allows for transcriptional elongation by RNA polymerase II. Further evidence has implicated the IKAP protein as being critical in neuronal development, and directs that decreased expression of IKAP in certain cell types is the molecular basis for the severe, neurodevelopmental disorder familial dysautonomia. Other pathways that have been connected to IKAP protein function in a variety of organisms include tRNA modification, cell motility, and cytosolic stress signalling. Homologs of the IKBKAP gene have been identified in multiple other Eukaryotic model organisms. Notable homologs include Elp1 in yeast, Ikbkap ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Familial Dysautonomia
Familial dysautonomia (FD), also known as Riley–Day syndrome, is a rare, progressive, recessive genetic disorder of the autonomic nervous system that affects the development and survival of sensory, sympathetic, and some parasympathetic neurons in the autonomic and sensory nervous system. FD results in variable symptoms, including insensitivity to pain, inability to produce tears, poor growth, and labile blood pressure (episodic hypertension and postural hypotension). People with FD have frequent vomiting crises, pneumonia, problems with speech and movement, difficulty swallowing, and inappropriate perception of heat, pain, and taste, as well as unstable blood pressure and gastrointestinal dysmotility. Originally reported by Drs. Conrad Milton Riley and Richard Lawrence Day in 1949, FD is one example of a group of disorders known as hereditary sensory and autonomic neuropathies ( HSANs). All HSANs are characterized by widespread sensory dysfunction and variable autonomic d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
HSN2
Hereditary sensory neuropathy, type II also known as HSN2 is a region of a parent protein which in humans is encoded by the ''WNK1'' gene. It is a transcript variant of the WNK1 gene that is selectively expressed in nervous system tissues, and during development. Mutations in this exon of the ''WNK1'' gene have been identified as causative in genetic neuropathy syndromes, and in inherited pain insensitivity. Function The HSN2-containing ''WNK1'' isoforms are expressed in the sensory transducing neurons both in the peripheral nervous system and the central nervous system. The sensory afferent neurons expressing the HSN2 splice variant of ''WNK1'' are associated with the transmission of sensory and nociceptive signals. The novel protein product of the isoform is more plentiful in sensory neurons than motor neurons. It is proposed that this gene product may play a role in the development and/or maintenance of peripheral sensory neurons or their supporting Schwann cells. Clinical sign ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DNMT1
DNA (cytosine-5)-methyltransferase 1 (Dnmt1) is an enzyme that catalyzes the transfer of methyl groups to specific CpG sites in DNA, a process called DNA methylation. In humans, it is encoded by the ''DNMT1'' gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. 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: protei .... Dnmt1 forms part of the family of DNA methyltransferase enzymes, which consists primarily of DNMT1, DNMT3A, and DNMT3B. Function This enzyme is responsible for maintaining DNA methylation, which ensures the fidelity of this epigenetic patterns across cell divisions. In line with this role, it has a strong preference towards methylating CpGs on hemimethylated DNA. However, DNMT1 can catalyze de novo DNA methylation in specific genomic contexts, including transposable elements and paternal imprint control regions. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SPTLC1
Serine palmitoyltransferase, long chain base subunit 1, also known as SPTLC1, is a protein which in humans is encoded by the ''SPTLC1'' gene. Serine palmitoyltransferase, which consists of two different subunits, is the initial enzyme in sphingolipid biosynthesis. It converts L-serine and palmitoyl CoA to 3-oxosphinganine with pyridoxal 5'-phosphate as a cofactor. The product of this gene is the long chain base subunit 1 of serine palmitoyltransferase. Mutations in this gene were identified in patients with hereditary sensory neuropathy Hereditary sensory and autonomic neuropathy (HSAN) or hereditary sensory neuropathy (HSN) is a condition used to describe any of the types of this disease which inhibit sensation. They are less common than Charcot-Marie-Tooth disease. Classif ... type 1, macular disease, and juvenile amyotrophic lateral sclerosis. Alternatively spliced variants encoding different isoforms have been identified. References Further reading * * * * * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Peripheral Nervous System
The peripheral nervous system (PNS) is one of two components that make up the nervous system of Bilateria, bilateral animals, with the other part being the central nervous system (CNS). The PNS consists of nerves and ganglia, which lie outside the brain and the spinal cord. The main function of the PNS is to connect the CNS to the Limb (anatomy), limbs and Organ (anatomy), organs, essentially serving as a relay between the brain and spinal cord and the rest of the body. Unlike the CNS, the PNS is not protected by the vertebral column and skull, or by the blood–brain barrier, which leaves it exposed to toxins. The peripheral nervous system can be divided into a somatic nervous system, somatic division and an autonomic nervous system, autonomic division. Each of these can further be differentiated into a sensory and a motor sector. In the somatic nervous system, the cranial nerves are part of the PNS with the exceptions of the olfactory nerve and epithelia and the optic nerve (c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
