http___manastirea-crasna.com_recesivna-hipertenzija-gen.php_1.xml
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Overview Brain Lesions of the brain is an umbrella term for at least six conditions in which blood vessels of the brain are affected. Such malformations are classified into several types in which the symptoms, severity, and causes vary. These types of VMB are (1) arteriovenous malformations (AVM), abnormal arteries and veins; (2) cavernous malformations (CM), enlarged blood-filled spaces; (3) venous angiomas (VA), abnormal veins; (4) telangiectasias (TA), enlarged capillary-sized vessels; (5) vein of Galen malformations (VGM); and (6) mixed malformations (MM). Cause Three types or forms of VMB have a genetic component. The evidence for a genetic cause is strong in the case of cavernous hemangiomas and telangiectasias. The case is much weaker for arteriovenous malformation of the brain (AVM). In each of these cases, the condition is transmitted as an autosomal dominant trait. The malfunctioning gene in the case of cavernous malformations has been tracked to gene map locus 7q11.2-q21, and in the case of telangiectasia to gene map locus 9q34.1. Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 9q34.1” refers to band 34.1 on the long arm of chromosome 7. The numbered bands specify the location of the thousands of genes that are present on each chromosome. To say that the abnormal gene is located at 7q11.2-q21 means that the gene in question is located in a region on the long arm of chromosome 7 between bands 11.2 and 21. Genetic diseases are determined by the combination of genes for a particular trait that is on the chromosomes received from the father and the mother. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child. Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females. All individuals carry a few abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder. X-linked recessive genetic disorders are conditions caused by an abnormal gene on the X chromosome. Females have two X chromosomes but one of the X chromosomes is “turned off” and all of the genes on that chromosome are inactivated. Females who have a disease gene present on one of their X chromosomes are carriers for that disorder. Carrier females usually do not display symptoms of the disorder because it is usually the X chromosome with the abnormal gene that is “turned off”. A male has one X chromosome and if he inherits an X chromosome that contains a disease gene, he will develop the disease. Males with X-linked disorders pass the disease gene to all of their daughters, who will be carriers. A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome instead of their X chromosome to male offspring. Female carriers of an X-linked disorder have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have a son affected with the disease, and a 25% chance to have an unaffected son. X-linked dominant disorders are also caused by an abnormal gene on the X chromosome, but in these rare conditions, females with an abnormal gene are affected by the disease. Males with an abnormal gene are more severely affected than females, and many of these males do not survive. Symptoms Vascular malformations of the brain may cause headaches, seizures, strokes, or bleeding in the brain (cerebral hemorrhage). Some researchers believe that the type of malformation determines the symptoms and progression of the disease. Other researchers believe that only the severity rather than the type of malformation is important. Arteriovenous malformations or AVMs affect arteries, veins, and middle-sized vessels but not capillaries. These blood vessels are enlarged, twisted, and tangled. Arteries and veins may be connected directly instead of being connected through fine capillaries for which reason they are often referred to as “shunt lesions” since the capillaries are by-passed. These abnormal “feeding” arteries progressively enlarge and as a result, the “draining” veins dilate as well. The brain tissue between these vessels may be hardened or rigid (atrophied), full of a network of fine small fibers (fibrils) interspersed with flattened cells (gliotic), and sometimes may be calcified. Such malformations may, by drawing blood away from the brain, cause brain cell atrophy. Hemorrhages or seizures are commonly experienced with AVMs. (For more information on this disorder choose “Arteriovenous” for your search term in the Rare Disease Database.) Cavernous malformations, CMs (also called cavernous angiomas, or cavernous hemangiomas, or cavernomas) present as abnormally enlarged collections of blood-filled spaces. A cavernous hemangioma acts like a “blood sponge” soaking up blood that has found its way between capillaries, in the spaces between tissues (sinusoids), and “larger cavernous spaces.” These are “slow-flow lesions.” There is not usually any brain tissue in these spaces in contrast with symptoms of AVMs. Hemorrhages or seizures are also common with CMs. (For more information on this disorder choose “cavernous hemangioma” for your search term in the Rare Disease Database.) Venous angiomas (VAs) involve enlarged, tangled, and twisted veins that vary in size but do not involve the arteries. The site of these “growths” is most often just after the capillary stage of the vessel (post-capillary malformation). They may be isolated defects or associated with cavernous malformations. The defect shows itself as a “crown” of small veins (venules) that meet to form part of a larger vein (trunk). Telangiectasias are the malformations that arise as a result of the enlarging (dilation) of the tiny capillaries. These dilated capillaries make themselves known as small pink-red spots in various parts of the body such as the face, eyes, membranes that cover the brain (dura) and spinal cord (meninges), and mucous membranes (the thin moist layer lining the body’s internal surfaces). (For more information on a disorder involving telangiectasias choose “hemorrhagic telangiectasia, hereditary” for your search term in the Rare Disease Database.) Vein of Galen malformations (VGMs begin while the embryo is developing. The vein of Galen is located under the cerebral hemispheres and drains the forward (anterior) and central regions of the brain into the proper sinuses. The malformations occur when the vein of Galen is not supported within the head by the surrounding tissue and lacks the normal fibrous wall. Thus, the vein of Galen appears free-floating within the fluids of the cerebral spaces (sinuses). Should the pressure increase within the vein of Galen, its shape changes from a cylinder to that of a sphere. Such changes are accompanied by abnormal fetal blood circulation. In extreme cases, there may be cardiac failure or swelling of the brain (hydrocephalus). The mixed malformation is a phrase used to include any of several multiple-mixed malformations. Frequently, these malformations appear to be mixes of arteriovenous malformations with telangiectasias. Treatment Current treatment options vary according to the severity and location of the malformation. Surgical removal (resection), multiple embolization (an operation in which pellets are put into the circulatory system in order to block blood flow to and/or from the abnormal blood vessels), and irradiation are the treatments currently in use. In some cases, treatment may not be necessary. Recently introduced techniques involve particle beam and stereotaxic radio-surgery. Genetic counseling may be of benefit for patients and their families if they have a hereditary form of this disorder. Other treatment is symptomatic and supportive. Other Vascular malformations of the brain affect males and females in equal numbers. A hereditary form of cavernous malformations tends to occur more frequently in Mexican-Americans. Arteriovenous malformations occur more frequently in males. Symptoms of the following disorders can be similar to those of vascular malformations of the brain. Comparisons may be useful for a differential diagnosis: Moyamoya disease Moyamoya disease is a progressive disease that affects blood vessels in the brain (cerebrovascular). It is characterized by narrowing and/or closing of the main artery to the brain (carotid) which decreases the blood supply. This lack of blood may cause semi- or complete paralysis of the feet, legs, or upper extremities. Cerebral bleeding, convulsions, headaches, various vision problems, mental deficiencies, and psychiatric problems may also occur. (For more information on this disorder, choose “Moyamoya” as your search term in the Rare Disease Database. Cerebral aneurysm A cerebral aneurysm is a dilation, bulging, or ballooning of part of the wall of a vein or artery in the brain. Cerebral aneurysms can occur at any age, although they are more common in adults than in children and are slightly more common in women than in men. The signs and symptoms of an unruptured cerebral aneurysm will partly depend on its size and its rate of growth. For example, a small, unchanging aneurysm will generally produce no symptoms, whereas a larger aneurysm that is steadily growing may produce symptoms such as loss of feeling in the face or problems with the eyes. Immediately before an aneurysm ruptures, an individual may experience such symptoms as a sudden and unusually severe headache, nausea, vision impairment, vomiting, and loss of consciousness. Cerebrovascular accident (stroke) Cerebrovascular accidents (strokes) occur because the blood supply to the brain has been cut off or decreased. Thrombotic strokes occur when a clot has narrowed or completely closed an artery in the neck or head. This is usually the result of the buildup of fat-containing materials and calcium (plaque) on the inner linings of the blood vessels (atherosclerosis or hardening of the arteries). Embolic strokes occur when a clot breaks away from a diseased artery in another part of the body or the heart and clogs a smaller artery in the brain. Hemorrhagic strokes occur when a blood vessel ruptures in or around the brain, depriving that area of circulating blood. Each type of stroke has its own symptoms, progression, and prognosis. Clumsiness, headaches, speech difficulties, weakness, or paralysis of one or both sides of the body may occur. Stiff neck, nausea, vomiting, and loss of consciousness are also common symptoms. Source https://rarediseases.org/rare-diseases/vascular-malformations-of-the-brain/
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Recesivna hipertenzija gen Cistična fibroza, anemija srpastih stanica Xvezan Obiteljski rahitis, nasljedni nefritis Daltonizam, hemofilija Skup gena zovemo genotip. Sve nasljedne osobine određene su genima. Neke osobine, kao boja kose, razlikuju ljude međusobno. Nenormalne osobine koje iskazuju nenormalni geni mogu uzrokovati nasljedne bolesti. Monogenske bolesti bolesti jednog gena Učinak monogenskih bolesti ovisi o tome je li gen dominantan, recesivan ili smješten na X kromosomu Xvezan. Budući da svaki gen uvjetuje proizvodnju određenog proteina, jedan nenormalni gen dovest će do recesivna hipertenzija gen jednog nenormalnog proteina ili nenormalne količine jednog proteina, što može dovesti do nenormalne funkcije stanice i konačno do fizičkih promjena ili promjena tjelesnih funkcija. Siguran lijek za hipertenziju - manastirea-crasna.com - 4 Geni koji nisu X-vezani Utjecaj što ga proizvede jedan nenormalni gen na autosomnom kromosomu može biti deformitet, bolest ili sklonost razvoju određenih bolesti. Slijedeća načela možemo općenito primijeniti na osobine određene dominantnim genom: Osobe s tom osobinom imaju barem jednog roditelja s istom osobinom, osim u slučaju kad je svojstvo posljedica nove mutacije. Nenormalne genetske osobine češće su posljedica nove mutacije, nego naslijeđene od roditelja. - Vysoký spodní tlak léčba - Hipertenzija s proteinurijom - Humana hipertenzija određena je dominantnim autosomnim genom - Prepoznati hipertenziju kao dominantnu ili recesivnu Osobe koje nemaju nenormalnu osobinu, čak i ako njihova djeca imaju tu osobinu, nisu nosioci nenormalnog gena i ne mogu ga prenijeti na potomstvo. Muškarci i žene imaju gotovo recesivna hipertenzija gen vjerojatnost da budu nositelji nenormalnog svojstva. Nenormalnost može, i najčešće jest, ispoljena u svakoj generaciji. Slijedeća načela možemo općenito primjeniti na osobine određene recesivnim genima: Svatko s tom osobinom ima roditelje koji imaju gen, ali ni jedan roditelj ne mora imati osobinu. Mutacije najčešće ne dovode do iskazivanja osobine. Kad hipertenzija pušač roditelj ima izraženu osobinu, a drugi ima jedan recesivan gen, ali ne iskazuje osobinu, pola njihove djece će vjerojatno iskazivati osobinu, ostali će biti nosioci s jednim recesivnim genom. Ako roditelj bez nenormalne osobine nema nenormalni recesivni gen, ni jedno dijete neće iskazivati nenormalnu osobinu, ali će sva djeca naslijediti nenormalan gen od drugog roditelja koji mogu prenijeti na svoje potomstvo. Osobe koje ne iskazuju nenormalnu osobinu, a imaju djecu s takvom osobinom, vjerojatno imaju jedan nenormalni gen. Nenormalnost se može pojaviti u svakoj generaciji, ali najčešće se ne pojavljuje osim ako oba roditelja imaju ispoljeno nenormalno svojstvo. Nasljeđivanje nenormalnih recesivnih gena Neke bolesti uzrokuje nenormalan recesivan gen. Da bi dobila bolest osoba mora naslijediti dva gena, po jedan od svakog roditelja. Kandidatni geni za hipertenziju Ako oba roditelja imaju jedan nenormalan i jedan normalan gen, oni neće imati bolest, ali će je prenijeti na potomke. Dominantni geni koji uzrokuju teške bolesti su rijetki. Oni maju tendenciju nestanka jer ljudi koji ih imaju često su jako bolesni da bi imali djecu. Međutim, postoji nekoliko iznimki, kao što je Huntingtonova bolest kod koje nastaju teški poremećaji u funkciji mozga koji najčešće nastaju nakon Do tada osoba već može imati djecu. Recesivni geni se iskazuju samo onda kad osoba ima dva takva gena. Osoba s jednim recesivnim genom nema recesivna hipertenzija gen osobinu, ali je nositelj gena za takvu osobinu i može je prenijeti svojoj djeci. X-vezani geni Budući da na Y kromosomu u muškarca ima svega nekoliko gena, geni na jednom X kromosomu Xvezani, spolnovezani geni su bez para recesivna hipertenzija gen zbog toga ispoljeni, bez obzira je su li dominantni ili recesivni. Budući da žene imaju dva X kromosoma, za gene na tim kromosomima vrijede ista pravila kao za gene na autosomnim kromosomima: osim ako oba gena u paru nisu recesivna, ispoljit će se samo dominantni gen. Ako je jedan nenormalni Xvezani gen dominantan, muškarci s tim genom prenijet će recesivna hipertenzija gen na sve svoje kćeri, ali na niti jednog sina. Sinovi osobe s nenormalnim genom dobit će očev Y recesivna hipertenzija gen na kojem se nalazi nenormalan gen. Žene s jednim nenormalnim genom prenijet će nenormalnost polovici svoje djece, muške ili ženske. Ako je nenormalni Xvezani gen recesivan, gotovo svatko s ispoljenom osobinom je muškarac. Muškarci prenose nenormalno svojstvo samo na svoje kćeri, a sve one postaju nositelji. Majke nositelji ne iskazuju svojstva, ali prenose gene na polovicu svojih sinova, koji obično iskazuju nenormalno svojstvo. Ni jedna njena kćer neće iskazivati nenormalno svojstvo, ali će ih pola biti nositelji. U muškaraca, gen za daltonizam dolazi od majke koja je također daltonist ili koja ima normalan vid za boje, ali je nosilac gena za daltonizam. Genske nenormalnosti Muškarci nikad taj gen ne nasljeđuju od oca jer od njega dobivaju Y kromosom. Kćerke očeva daltonista su rijetko i same daltonisti, ali su uvijek nositelji gena za daltonizam. Kodominantno nasljeđivanje U recesivna hipertenzija gen se nasljeđivanju oba gena iskazuju. Jedan primjer je anemija srpastih stanica drepanocitoza : ako osoba ima jedan normalni gen i jedan nenormalni gen, imat će crvene krvne stanice s normalnim i s nenormalnim pigmentom hemoglobinom. Humana hipertenzija određena je dominantnim autosomnim genom Nasljeđivanje nenormalnih recesivnih X-vezanih gena Ako je gen Xvezan pojavljuje se na X kromosomu, ali se ne pojavljuje na Y kromosomu. Bolesti koje su posljedica abnormalnog recesivnog Xvezanog gena obično imaju samo muškarci budući da imaju jedan x kromosom. Žene imaju dva x kromosoma, pa obično imaju normalan gen na drugom kromo somu. Normalni gen je dominantan, pa žene ne razvijaju bolest. Ako otac ima nenormalan gen na svom X kromo somu, a majka dva normalna gena, sve njihove kćeri imat će jedan normalan i jedan nenormalan gen i biti nositelji. Niti jedan sin neće imati nenormalan gen. Prepoznati hipertenziju kao dominantnu ili recesivnu Nenormalni mitohondrijski geni U svakoj stanici nalaze se mitohondriji, sitne strukture koje stanici proizvode energiju. Svaki mitohondrij sadrži kružni kromosom. Nekoliko rijetkih bolesti su uzrokovane nenormalnim genima koji se nalaze na kromosomu mitohondrija. Kad se oplodi jajna stanica, samo mitohondriji iz jajne stanice postaju dijelom zametka; recesivna hipertenzija gen se mitohondriji spermija odbacuju. Zbog toga se bolesti uzrokovane nenormalnim mitohondrijskim genima nasljeđuju od majke. Policistični bubrezi Očevi s nenormalnim mitohondrijskim genima ne mogu prenijeti takve bolesti na svoju djecu. Geni koji uzrokuju rak Stanice raka mogu sadržavati onkogene, što su geni koji uzrokuju karcinom također zvani tumorski geni. Ovi onkogeni se mogu reaktivirati kasnije u životu i mogu uzrokovati rak. Kako dolazi do njihove ponovne aktivacije nije poznato. U ovom poglavlju:.