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Connective Tissue Disease
Connective tissue diseases (also termed connective tissue disorders, or collagen vascular diseases), are medical conditions that affect connective tissue. Connective tissues protect, support, and provide structure for the body's other tissues and structures. They hold the body's structures together. Connective tissues consist of two distinct proteins: elastin and collagen. Tendons, ligaments, skin, cartilage, bone, and blood vessels are all made of collagen. Skin and ligaments also contain elastin. These proteins and the surrounding tissues may suffer damage when the connective tissues become inflamed. The two main categories of connective tissue diseases are (1) a set of relatively rare genetic disorders affecting the primary structure of connective tissue, and (2) a variety of acquired diseases where the connective tissues are the site of multiple, more or less distinct immunological and inflammatory reactions. Diseases in which inflammation or weakness of collagen tends to ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Connective Tissue
Connective tissue is one of the four primary types of animal tissue, a group of cells that are similar in structure, along with epithelial tissue, muscle tissue, and nervous tissue. It develops mostly from the mesenchyme, derived from the mesoderm, the middle embryonic germ layer. Connective tissue is found in between other tissues everywhere in the body, including the nervous system. The three meninges, membranes that envelop the brain and spinal cord, are composed of connective tissue. Most types of connective tissue consists of three main components: elastic and collagen fibers, ground substance, and cells. Blood and lymph are classed as specialized fluid connective tissues that do not contain fiber. All are immersed in the body water. The cells of connective tissue include fibroblasts, adipocytes, macrophages, mast cells and leukocytes. The term "connective tissue" (in German, ) was introduced in 1830 by Johannes Peter Müller. The tissue was already recognized as ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Disorder
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a ''de novo'' mutation), or it can be inherited from two parents who are carriers of a faulty gene ( autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). There are well over 6,000 known ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Osteogenesis Imperfecta
Osteogenesis imperfecta (; OI), colloquially known as brittle bone disease, is a group of genetic disorders that all result in bones that bone fracture, break easily. The range of symptoms—on the skeleton as well as on the body's other Organ (biology), organs—may be mild to severe. Symptoms found in various types of OI include sclera, whites of the eye (sclerae) that are blue instead, short stature, joint hypermobility, loose joints, hearing loss, breathing problems and problems with the teeth (dentinogenesis imperfecta). Potentially life-threatening Complication (medicine), complications, all of which become more common in more severe OI, include: tearing (Dissection (medical), dissection) of the major arteries, such as Aortic dissection, the aorta; pulmonary insufficiency, pulmonary valve insufficiency secondary to distortion of the ribcage; and basilar invagination. The underlying mechanism is usually a problem with connective tissue due to a lack of, or poorly forme ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Blood Vessel
Blood vessels are the tubular structures of a circulatory system that transport blood throughout many Animal, animals’ bodies. Blood vessels transport blood cells, nutrients, and oxygen to most of the Tissue (biology), tissues of a Body (biology), body. They also take waste and carbon dioxide away from the tissues. Some tissues such as cartilage, epithelium, and the lens (anatomy), lens and cornea of the eye are not supplied with blood vessels and are termed ''avascular''. There are five types of blood vessels: the arteries, which carry the blood away from the heart; the arterioles; the capillaries, where the exchange of water and chemicals between the blood and the tissues occurs; the venules; and the veins, which carry blood from the capillaries back towards the heart. The word ''vascular'', is derived from the Latin ''vas'', meaning ''vessel'', and is mostly used in relation to blood vessels. Etymology * artery – late Middle English; from Latin ''arteria'', from Gree ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ehlers–Danlos Syndrome
Ehlers–Danlos syndromes (EDS) is a group of 14 genetic connective-tissue disorders. Symptoms often include loose joints, joint pain, stretchy velvety skin, and abnormal scar formation. These may be noticed at birth or in early childhood. Complications may include aortic dissection, joint dislocations, scoliosis, chronic pain, or early osteoarthritis. The existing classification was last updated in 2017, when a number of rarer forms of EDS were added. EDS occurs due to mutations in one or more particular genes—there are 19 genes that can contribute to the condition. The specific gene affected determines the type of EDS, though the genetic causes of hypermobile Ehlers–Danlos syndrome are still unknown. Some cases result from a new variation occurring during early development, while others are inherited in an autosomal dominant or recessive manner. Typically, these variations result in defects in the structure or processing of the protein collagen or tenascin. Diagnos ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Homocysteine
Homocysteine (; symbol Hcy) is a non-proteinogenic α-amino acid. It is a homologous series, homologue of the amino acid cysteine, differing by an additional methylene bridge (). It is biosynthesized from methionine by the removal of its terminal Cε methyl group. In the body, homocysteine can be recycled into methionine or converted into cysteine with the aid of Vitamin B6, vitamin B6, Folate, B9, and Vitamin B12, B12. High levels of homocysteine in the blood (hyperhomocysteinemia) is regarded as a marker of cardiovascular disease, likely working through atherogenesis, which can result in Ischemia, ischemic injury. Therefore, hyperhomocysteinemia is a possible risk factor for coronary artery disease. Coronary artery disease occurs when an atherosclerotic plaque blocks blood flow to the Coronary artery, coronary arteries, which supply the heart with oxygenated blood. Hyperhomocysteinemia has been correlated with the occurrence of blood clots, heart attacks, and strokes, although ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cystathionine Beta Synthase
Cystathionine-β-synthase, also known as CBS, is an enzyme () that in humans is encoded by the ''CBS'' gene. It catalyzes the first step of the transsulfuration pathway, from homocysteine to cystathionine: : L-serine + L-homocysteine \rightleftharpoons L-cystathionine + H2O CBS uses the cofactor pyridoxal-phosphate (PLP) and can be allosterically regulated by effectors such as the ubiquitous cofactor ''S''-adenosyl-L-methionine (adoMet). This enzyme belongs to the family of lyases, to be specific, the hydro-lyases, which cleave carbon-oxygen bonds. CBS is a multidomain enzyme composed of an N-terminal enzymatic domain and two CBS domains. The ''CBS'' gene is the most common locus for mutations associated with homocystinuria. Nomenclature The systematic name of this enzyme class is L-serine hydro-lyase (adding homocysteine; L-cystathionine-forming). Other names in common use include: * β-thionase, * cysteine synthase, * L-serine hydro-lyase (adding homocysteine), * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Methionine
Methionine (symbol Met or M) () is an essential amino acid in humans. As the precursor of other non-essential amino acids such as cysteine and taurine, versatile compounds such as SAM-e, and the important antioxidant glutathione, methionine plays a critical role in the metabolism and health of many species, including humans. Methionine is also involved in angiogenesis and various processes related to DNA transcription, epigenetic expression, and gene regulation. Methionine was first isolated in 1921 by John Howard Mueller. It is Genetic code, encoded by the codon AUG. It was named by Satoru Odake in 1925, as an abbreviation of its structural description 2-amino-4-(methylthio)butanoic acid. Biochemical details Methionine (abbreviated as Met or M; encoded by the codon AUG) is an α-amino acid that is used in the biosynthesis of proteins. It contains a carboxyl group (which is in the deprotonated −COO− form under biological pH conditions), an amino group (which is in the proton ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Homocystinuria
Homocystinuria (HCU) is an inherited disorder of the metabolism of the amino acid methionine due to a deficiency of cystathionine beta synthase or methionine synthase. It is an inherited autosomal recessive trait, which means a child needs to inherit a copy of the defective gene from both parents to be affected. Symptoms of homocystinuria can also be caused by a deficiency of vitamins B6, B12, or folate. Signs and symptoms This defect leads to a multi-systemic disorder of the connective tissue, muscles, central nervous system (CNS), and cardiovascular system. Homocystinuria represents a group of hereditary metabolic disorders characterized by an accumulation of the amino acid homocysteine in the serum and an increased excretion of homocysteine in the urine. Infants appear to be normal and early symptoms, if any are present, are vague. Signs and symptoms of homocystinuria that may be seen include the following: Cause It is usually caused by the deficiency of the enzyme cyst ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fibrillin-1
Fibrillin-1 is a protein that in humans is encoded by the ''FBN1'' gene, located on chromosome 15. It is a large, extracellular matrix glycoprotein that serves as a structural component of 10–12 nm calcium-binding microfibrils. These microfibrils provide force bearing structural support in elastic and nonelastic connective tissue throughout the body. Mutations altering the protein can result in a variety of phenotypic effects differing widely in their severity, including fetal death, developmental problems, Marfan syndrome or in some cases Weill-Marchesani syndrome. Gene ''FBN1'' is a 230-kb gene with 65 coding exons that encode a 2,871-amino-acid long proprotein called profibrillin which is proteolytically cleaved near its C-terminus by the enzyme furin convertase to give fibrillin-1, a member of the fibrillin family, and the 140-amino-acid long protein hormone asprosin. Structure The sequence of fibrillin-1 includes 47 six-cysteine EGF-like domains, 7 eight-cystein ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Marfan Syndrome
Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with dolichostenomelia, long arms, legs, Arachnodactyly, fingers, and toes. They also typically have hypermobility (joints), exceptionally flexible joints and scoliosis, abnormally curved spines. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm. The lungs, eyes, bones, and the dura mater, covering of the spinal cord are also commonly affected. The severity of the symptoms is variable. MFS is caused by a mutation in ''FBN1'', one of the genes that make fibrillin, which results in abnormal connective tissue. It is an autosomal dominant disorder. In about 75% of cases, it is inherited from a parent with the condition, while in about 25% it is a new mutation. Diagnosis is often based on the Ghent criteria, family history and genetic testing (DNA analysis). Th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
