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COX6B1
Cytochrome c oxidase subunit 6B1 is an enzyme that in humans is encoded by the ''COX6B1'' gene. Cytochrome ''c'' oxidase 6B1 is a subunit of the cytochrome ''c'' oxidase complex, also known as Complex IV, the last enzyme in the mitochondrial electron transport chain. Mutations of the COX6B1 gene are associated with severe infantile encephalomyopathy and mitochondrial complex IV deficiency (MT-C4D). Structure The COX6B1 gene, located on the q arm of chromosome 19 in position 13.1, contains 4 exons and is 10,562 base pairs in length. The COX6B1 protein weighs 10 kDa and is composed of 86 amino acids. The protein is a subunit of Complex IV, a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes, and multiple structural subunits encoded by nuclear genes. Function Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Complex IV
The enzyme cytochrome c oxidase or Complex IV (was , now reclassified as a translocasEC 7.1.1.9 is a large transmembrane protein complex found in bacteria, archaea, and the mitochondria of eukaryotes. It is the last enzyme in the respiratory electron transport chain of cells located in the membrane. It receives an electron from each of four cytochrome c molecules and transfers them to one oxygen molecule and four protons, producing two molecules of water. In addition to binding the four protons from the inner aqueous phase, it transports another four protons across the membrane, increasing the transmembrane difference of proton electrochemical potential, which the ATP synthase then uses to synthesize ATP. Structure The complex The complex is a large integral membrane protein composed of several metal prosthetic sites and 13 protein subunits in mammals. In mammals, ten subunits are nuclear in origin, and three are synthesized in the mitochondria. The complex contains two ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Enzyme
An enzyme () is a protein that acts as a biological catalyst by accelerating chemical reactions. The molecules upon which enzymes may act are called substrate (chemistry), substrates, and the enzyme converts the substrates into different molecules known as product (chemistry), products. Almost all metabolism, metabolic processes in the cell (biology), cell need enzyme catalysis in order to occur at rates fast enough to sustain life. Metabolic pathways depend upon enzymes to catalyze individual steps. The study of enzymes is called ''enzymology'' and the field of pseudoenzyme, pseudoenzyme analysis recognizes that during evolution, some enzymes have lost the ability to carry out biological catalysis, which is often reflected in their amino acid sequences and unusual 'pseudocatalytic' properties. Enzymes are known to catalyze more than 5,000 biochemical reaction types. Other biocatalysts include Ribozyme, catalytic RNA molecules, also called ribozymes. They are sometimes descr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypotonia
Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but it is a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength. Hypotonia is a lack of resistance to passive movement whereas muscle weakness results in impaired active movement. Central hypotonia originates from the central nervous system, while peripheral hypotonia is related to problems within the spinal cord, peripheral nerves, and/or skeletal muscles. Severe hypotonia in infancy is commonly known as floppy baby syndrome. Recognizing hypotonia, even in early infancy, is usually relatively straightforward, but medical diagnosis, diagnosing the underlying cause can be difficult and often unsuccessful. The long-term effects of hypotonia on a child's development and later life depend primarily on the severity of the mus ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein–protein Interaction
Protein–protein interactions (PPIs) are physical contacts of high specificity established between two or more protein molecules as a result of biochemical events steered by interactions that include electrostatic forces, hydrogen bonding and the hydrophobic effect. Many are physical contacts with molecular associations between chains that occur in a cell or in a living organism in a specific biomolecular context. Proteins rarely act alone as their functions tend to be regulated. Many molecular processes within a cell are carried out by molecular machines that are built from numerous protein components organized by their PPIs. These physiological interactions make up the so-called Interactome, interactomics of the organism, while aberrant PPIs are the basis of multiple aggregation-related diseases, such as Creutzfeldt–Jakob disease, Creutzfeldt–Jakob and Alzheimer's diseases. PPIs have been studied with Methods to investigate protein–protein interactions, many methods and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hydrocephalus
Hydrocephalus is a condition in which cerebrospinal fluid (CSF) builds up within the brain, which can cause pressure to increase in the skull. Symptoms may vary according to age. Headaches and double vision are common. Elderly adults with normal pressure hydrocephalus (NPH) may have poor balance, difficulty controlling urination, or mental impairment. In babies, there may be a rapid increase in head size. Other symptoms may include vomiting, sleepiness, seizures, and downward pointing of the eyes. Hydrocephalus can occur due to birth defects (primary) or can develop later in life (secondary). Hydrocephalus can be classified via mechanism into communicating, noncommunicating, ''ex vacuo'', and normal pressure hydrocephalus. Diagnosis is made by physical examination and medical imaging, such as a CT scan. Hydrocephalus is typically treated through surgery. One option is the placement of a shunt system. A procedure called an endoscopic third ventriculostomy has gained ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Encephalopathy
Encephalopathy (; ) means any disorder or disease of the brain, especially chronic degenerative conditions. In modern usage, encephalopathy does not refer to a single disease, but rather to a syndrome of overall brain dysfunction; this syndrome has many possible organic and inorganic causes. Types There are many types of encephalopathy. Some examples include: * Mitochondrial encephalopathy: Metabolic disorder caused by dysfunction of mitochondrial DNA. Can affect many body systems, particularly the brain and nervous system. * Acute necrotizing encephalopathy, rare disease that occurs following a viral infection. * Glycine encephalopathy: A genetic metabolic disorder involving excess production of glycine. * Hepatic encephalopathy: Arising from advanced cirrhosis of the liver. * Hypoxic ischemic encephalopathy: Permanent or transitory encephalopathy arising from severely reduced oxygen delivery to the brain. * Static encephalopathy: Unchanging, or permanent, brain damage, u ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Missense Mutation
In genetics, a missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. It is a type of nonsynonymous substitution. Missense mutations change amino acids, which in turn alter proteins and may alter a protein's function or structure. These mutations may arise spontaneously from mutagens like UV radiation, tobacco smoke, an error in DNA replication, and other factors. Screening for missense mutations can be done by sequencing the genome of an organism and comparing the sequence to a reference genome to analyze for differences. Missense mutations can be repaired by the cell when there are errors in DNA replication by using mechanisms such as DNA proofreading and DNA mismatch repair, mismatch repair. They can also be repaired by using genetic engineering technologies or pharmaceuticals. Some notable examples of human diseases caused by missense mutations are Rett syndrome, cystic fibrosis, and Sickle cell disease ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Leigh's Syndrome
Leigh syndrome (also called Leigh disease and subacute necrotizing encephalomyelopathy) is an inherited neurometabolic disorder that affects the central nervous system. It is named after Archibald Denis Leigh, a British neuropsychiatrist who first described the condition in 1951. Normal levels of thiamine, thiamine monophosphate, and thiamine diphosphate are commonly found, but there is a reduced or absent level of thiamine triphosphate. This is thought to be caused by a blockage in the enzyme thiamine-diphosphate kinase, and therefore treatment in some patients would be to take thiamine triphosphate daily. While the majority of patients typically exhibit symptoms between the ages of 3 and 12 months, instances of adult onset have also been documented. Signs and symptoms The symptoms of Leigh syndrome were classically described as beginning in infancy and leading to death within a span of several years; however, as more cases are recognized, it is apparent that symptoms can emerg ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy (HCM, or HOCM when obstructive) is a condition in which muscle tissues of the heart become thickened without an obvious cause. The parts of the heart most commonly affected are the interventricular septum and the ventricles. This results in the heart being less able to pump blood effectively and also may cause electrical conduction problems. Specifically, within the bundle branches that conduct impulses through the interventricular septum and into the Purkinje fibers, as these are responsible for the depolarization of contractile cells of both ventricles. People who have HCM may have a range of symptoms. People may be asymptomatic, or may have fatigue, leg swelling, and shortness of breath. It may also result in chest pain or fainting. Symptoms may be worse when the person is dehydrated. Complications may include heart failure, an irregular heartbeat, and sudden cardiac death. HCM is most commonly inherited in an autosomal dominant pattern. I ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Intellectual Disability
Intellectual disability (ID), also known as general learning disability (in the United Kingdom), and formerly mental retardation (in the United States), Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010).Archive is a generalized neurodevelopmental disorder characterized by significant impairment in intellectual and adaptive functioning that is first apparent during childhood. Children with intellectual disabilities typically have an intelligence quotient (IQ) below 70 and deficits in at least two adaptive behaviors that affect everyday living. According to the DSM-5, intellectual functions include reasoning, problem solving, planning, abstract thinking, judgment, academic learning, and learning from experience. Deficits in these functions must be confirmed by clinical evaluation and individualized standard IQ testing. On the other hand, adaptive behaviors include the social, developmental, and practical skills people learn to perform tasks in their everyday lives. Deficits in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Delayed Motor Development
Developmental coordination disorder (DCD), also known as developmental motor coordination disorder, developmental dyspraxia, or simply dyspraxia (from Ancient Greek ''praxis'' 'activity'), is a neurodevelopmental disorder characterized by impaired coordination of physical movements as a result of brain messages not being accurately transmitted to the body. Deficits in fine or gross motor skills movements interfere with activities of daily living. It is often described as disorder in skill acquisition, where the learning and execution of coordinated motor skills is substantially below that expected given the individual's chronological age. Difficulties may present as clumsiness, slowness and inaccuracy of performance of motor skills (e.g., catching objects, using cutlery, handwriting, riding a bike, use of tools or participating in team sports or swimming). It is often accompanied by difficulty with organisation and/or problems with attention, working memory and time management. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Developmental Disability
Developmental disability is a diverse group of chronic conditions, comprising mental or physical impairments that arise before adulthood. Developmental disabilities cause individuals living with them many difficulties in certain areas of life, especially in "language, mobility, learning, self-help, and independent living".Center for Disease Control and Prevention. (2013)Developmental disabilities.Retrieved October 18, 2013 Developmental disabilities can be detected early on and persist throughout an individual's lifespan. Developmental disability that affects all areas of a child's development is sometimes referred to as global developmental delay. The most common developmental disabilities are: * Motor disorders, and learning difficulties such as dyslexia, Tourette's syndrome, dyspraxia, dysgraphia, dyscalculia, and nonverbal learning disorder. * Autism spectrum disorder (ASD, formerly the PDD umbrella covering Asperger syndrome and classic autism) causes difficulties in s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
