You are searching about What Process Replaces Defective Human Genes With Normal Functional Genes, today we will share with you article about What Process Replaces Defective Human Genes With Normal Functional Genes was compiled and edited by our team from many sources on the internet. Hope this article on the topic What Process Replaces Defective Human Genes With Normal Functional Genes is useful to you.
What Process Replaces Defective Human Genes With Normal Functional Genes
Gaucher’s disease results from a hereditary enzyme deficiency. It can lead to a range of symptoms, including a swollen abdomen, anemia, and a susceptibility to bruising. Gaucher’s is a lysosomal storage disorder (LSD). It is the most prevalent out of almost 50 LSDs that have been identified. Other names for Gaucher’s disease are Gaucher disease, or glucocerebrosidase deficiency. It is pronounced “go-shays.” The condition is thought to affect between 1 in 50,000 and 1 in 100,000 people. Less than 1 percent of the population in the U.S. are carriers for type 1 Gaucher’s disease. Between 1 in 500 and 1 in 1,000 infants born to Ashkenazi Jewish parents has Gaucher’s disease. The carrier rate among this population is around 1 in every 14 people. A person with Gaucher’s disease lacks an enzyme, or protein, known as glucocerebrosidase. Glucocerebrosidase breaks down a type of fat, or lipid, known as glucosylceramide, or glucocerebroside, into sugar and simple fats to be used for energy. If the lipid is not broken down, it will start to collect inside the cells of the brain, bone marrow, lungs, spleen, and liver. These organs will not be able to function properly. The lipid can also collect in the macrophages, a type of white blood cell. Glucocerebrosidase exists in lysosomes, sac-like structures inside the cells. Lysosomes break down unwanted substances into simpler ones, so that the cell can use them to make new material or expel them. If the enzyme that breaks down the waste product is lacking, waste builds up in the cells. If too much waste builds up, the cells will no longer work properly. Serious health problems can result. Other lysosomal storage diseases (LSDs) include Pompe, Hunter, Fabry, and Hurler diseases. There are three types of Gaucher Disease. The main signs and symptoms are an enlargement of the liver and spleen, bone disease, and a low platelet and hemoglobin count, but not everyone will have the same symptoms. The most common sign is an enlarged spleen, called splenomegaly. This may cause no discomfort to the individual, or it may cause the abdomen to become swollen, full, or painful. It can also cause platelet and red blood cell dysfunction, because the spleen is a processing center for these cells. Low platelet and red blood cells in the body cause fatigue, easy bruising and bleeding. Type 1 This is the most common type. It accounts for around 9 in every 10 cases. The symptoms tend to be less severe, and the disease does not affect the brain. The severity of symptoms and the age of onset differ between individuals. Diagnosis can occur in childhood or adulthood. Signs and symptoms include: anemia, leading to fatigue and a lack of energy and staminathrombocytopenia, or low blood platelet numbers, leading to nosebleedsosteoporosis can lead to bone pain, bone thinning, widening of bones above the knee joint, and damage to joints, especially in the hips and shouldersliver damage, including an enlarged liver and pingueculae, or yellow spots in the eyes Other problems include: delayed pubertyenlarged spleenlung problems Low platelet numbers can make it easy for a person to bruise and bleed, because it takes a long time for the blood to clot. Type 2 Type 2 is the rarest and most severe form of Gaucher’s disease. It has the same symptoms as type 1, but it affects the nervous system, too. This type is also known as the acute infantile neuronopathic form and accounts for 1 in 20 cases of the disease. It involves brainstem abnormalities and serious and rapidly progressing brain damage. Signs and symptoms typically appear at the age of 3 to 6 months. In addition to the signs and symptoms seen in type 1, type 2 may involve: poor developmentapnea, where breathing stops temporarily during sleepseizures and jerking movementsrigiditydifficulty sucking and swallowing This is a fatal form of Gaucher’s disease, and most children do not survive beyond 2 years of age. Type 3 This form is rarer than type 1, but more common than type 2. Signs and symptoms usually appear during childhood or adolescence and progress more slowly than in type 2. It is often called chronic neuronopathic Gaucher disease. Brain damage is possible, but not as severely as in type 2. In addition to the signs and symptoms of type 1, type 3 may involve: delayed cognitive developmentseizuresdementiaconvulsionsabnormal eye movementsmuscle twitchespoor coordination Norbottnian Gaucher’s Disease is a kind of type 3. Symptoms may not become evident until young adulthood. Perinatal lethal Gaucher’s disease is the most severe type. Complications arise before birth or during infancy. Symptoms include extensive swelling, skin and neurological problems. It is normally fatal either before birth or a few days after. Gaucher’s disease happens because of a recessive mutation in a gene called GBA. GBA is located on chromosome 1. Humans normally have two copies of the genes that tell the body to produce the enzyme glucocerebrosidase, and both copies work correctly. If one copy is faulty, the person will not develop Gaucher’s disease, because just one functioning gene can produce enough of the enzyme. The person with one faulty gene will not get sick, but they will be a carrier. They can pass on the gene. If both parents are carriers, a child will have a: 25 percent chance of inheriting two faulty genes and having Gaucher’s disease50 percent risk of inheriting one faulty gene and being a carrier25 percent chance of inheriting no faulty genes and neither having Gaucher’s disease nor being a carrier A carrier can pass on the gene but not necessarily the disease. If signs and symptoms suggest that Gaucher’s disease may be present, or if there is a family history, the doctor will refer the individual to a genetic specialist. Blood tests can identify low levels of glucocerebrosidase. Genetic testing looks for the four most common genetic mutations, N370S, L444P, 84gg and IVS2[+1], and some less common ones. This test is not completely reliable because the whole range genetic mutations that may be linked with Gaucher’s disease are not yet known. Genetic testing for these four mutations is between 90 and 95 percent accurate in diagnosing Gaucher’s disease in the Ashkenazi Jewish population, and 50 percent to 60 percent accurate in the general population. Genetic testing combined with the enzyme test helps diagnose Gaucher’s disease accurately. If a woman with one faulty gene becomes pregnant, prenatal screening can help predict whether the fetus is likely to have the condition. Genetic testing before conception can predict a couple’s chances of having a child with Gaucher’s disease. Those with a family history of the condition and those of Ashkenazi Jewish descent may wish to ask about genetic counseling. There is no cure for Gaucher’s disease, but treatment can help decrease symptoms and improve quality of life. For patients with type 2 Gaucher’s disease, enzyme replacement therapy is available, but there is no effective treatment for the severe brain damage that is likely to occur. Some patients with mild type 1 may not need treatment, but they should be periodically monitored. For patients with type 1 or 3 Gaucher’s disease, a number of therapies may help. Enzyme replacement therapy (ERT) This treatment replaces deficient glucocerebrosidase with intravenous recombinant glucocerebrosidase, or imiglucerase. ERT can help many patients with type 1, and some with type 3. It can prevent enlargement of the liver and spleen and improve bone density blood platelet count. The main goal is to reduce symptoms and try to prevent irreversible complications. ERT does not treat nervous system problems, for example brain damage, in patients with types 2 and 3. Substrate reduction therapy (SRT) SRT aims to reduce the production and buildup of substrate, or waste material, in cells. It reduces the amount of waste a cell makes by decreasing the production of glucocerebroside, the substrate for the deficient enzyme. Miglustat, or Zavesca, is approved by the United States Food and Drug Administration (FDA) as an oral prescription medication for adults with mild to moderate type 1 Gaucher’s disease. The makers of the drug advise that patients use Zavesca only if they cannot be treated with ERT. Patients should either have never received ERT or have stopped using it for at least 6 months. A woman should not use Zavesca if she plans to become pregnant or while she is pregnant or breastfeeding. Bone marrow transplant A bone marrow transplant, also known as a stem cell transplant, replaces bone marrow that has been damaged by Gaucher’s with healthy bone marrow stem cells. Bone marrow is a spongy tissue found in the hollow centers of some bones. Bone marrow cells produce blood cells, including red and white blood cells, and platelets. Platelets help stop bleeding. Bone marrow transplantation is only used in severe cases of Gaucher’s disease. There is a risk of serious complications, including infection and rejection. Gaucher’s is a progressive disease, which means it develops gradually. Complications will depend on what type of symptoms the person has, and how severe they are. Osteoporosis can lead to an increased risk of fractures, pain, and other problems, and the higher risk of bleeding can also have an impact on different aspects of health. Some additional complications may occur. Cancer: there may be a higher risk of developing pancreatic cancer, malignant melanoma, and non-Hodgkin lymphoma, according to research published in JAMA, but no increased risk of other types of cancer. The National Gaucher Foundation suggests there is an increased risk of myeloma and hepatocellular carcinoma, or liver cancer. Parkinson’s disease: there may be a link with Parkinson’s, according to a study published in Autophagy. Complications linked with type 2 Gaucher’s can be severe. They include: dysphagia, or difficulty swallowingproblems with walkingseizures These problems get worse and can ultimately be fatal. The most common complication for patients with type 3 Gaucher’s disease is calcification of the heart valves, leading to aortic stenosis. An early diagnosis and prompt treatment will improve the outlook for people with Gaucher’s. Research published in the American Journal of Hematology suggests that the average life expectancy of a person with type 1 Gaucher’s disease is 68 years, compared with 77 years in the rest of the population. Most patients with type 2 Gaucher’s disease will not survive beyond the first 2 years of life. The National Gaucher Foundation says that life expectancy for type 3 Gaucher’s disease is shorter, but people with mild cases who receive treatment can live into their 50s. Researchers hope that as they discover more about the disease, new treatments may improve the outlook for people with all forms of the disease.
Video about What Process Replaces Defective Human Genes With Normal Functional Genes
How genetic engineering helps to replace the defective genes with the normal genes ? | 12 | BIO…
How genetic engineering helps to replace the defective genes with the normal genes ?
Class:12
Subject: BIOLOGY
Chapter: BIOTECHNOLOGY AND ITS APPLICATIONS
Book:PRADEEP
Board:CBSE
You can ask any doubt from class 6-12, JEE, NEET, Teaching, SSC, Defense and Banking exam on Doubtnut App or You can Whatsapp us at – 8400400400
Link – https://doubtnut.app.link/2um0jr7Joeb
Contact Us:
👉 Have Any Query? Ask Us.
🤙 Call: 01247158250
💬 WhatsApp: 8400400400
📧 Email: [email protected]
🌐 Website: https://www.doubtnut.com
Welcome to Doubtnut.
Doubtnut is World’s Biggest Platform for Video Solutions of Physics, Chemistry, Maths and Biology Doubts with over 5 million+ Video Solutions. Doubtnut is a Q&A App for Maths, Physics, Chemistry and Biology (up to JEE Advanced and NEET Level), Where You Can Ask Unlimited Questions by Clicking a Picture of Doubt on the Doubtnut App and Get Instant Video Solution.
Subscribe Our YouTube Channels:
✿ Doubtnut: https://www.youtube.com/channel/UCcv7pspGHmM7AOywuLM1ufA?sub_confirmation=1
✿ Class 11-12, JEE & NEET (Hindi): https://www.youtube.com/channel/UCiIrZf4bn1i0IOf8YgSMzWA?sub_confirmation=1
✿ Class 11-12, JEE & NEET (English):: https://www.youtube.com/channel/UCbJ_xe2bMLo9yuBC-i_13MQ?sub_confirmation=1
✿ Class 6-10 (Hindi): https://www.youtube.com/channel/UCZnV1hkn5A3fdpTOVi60tzg?sub_confirmation=1
✿ Class 6-10 (English): https://www.youtube.com/channel/UC9KeHSWOEBXIrbWYasHeSyg?sub_confirmation=1
✿ Doubtnut Govt. Exams: https://www.youtube.com/channel/UCWPaROsU_06MSqiZ_O6zaVg?sub_confirmation=1
Follow Us:
🔔 Facebook: https://www.facebook.com/doubtnut
🔔 Instagram: https://www.instagram.com/doubtnut
🔔 Telegram: https://t.me/DoubtnutOfficial
🔔 Twitter: https://twitter.com/DoubtnutApp
🔔 LinkedIn: https://www.linkedin.com/company/doubtnut
Our Telegram Pages:
🔔 Doubtnut Official: https://t.me/DoubtnutOfficial
🔔 Doubtnut IIT JEE: https://t.me/DoubtnutIITJEE
🔔 Doubtnut NEET: https://t.me/Doubtnut_NEET
🔔 Doubtnut CBSE Boards: https://t.me/DoubtnutCBSEBoards
🔔 Doubtnut UP Boards: https://t.me/DoubtnutUPBoards
🔔 Doubtnut Bihar Boards: https://t.me/DoubtnutBiharBoards
🔔 Doubtnut Government Exams: https://t.me/DoubtnutGovernmentExams
class 12
class 12 physics
class 12 chemistry
class 12 english
class 12 maths
class 12 biology
cbse class 12 result
class 12 economics
class 12 accountancy
class 12 syllabus physics
cbse class 12
class 12 english grammar
class 12 syllabus cbse
class 12 history
class 12 geography
class 12 ncert
class 12 syllabus
cbse class 12 maths
cbse class 12 english
cbse class 12 physics
cbse class 12 chemistry
class 12 grammar
cbse class 12 biology
cbse class 12 commerce
cbse class 12 accountancy
class 12 syllabus chemistry
class 12 grammar syllabus
class 12 syllabus maths
class 12 latest syllabus
class 12 syllabus english
class 12 syllabus biology
class 12 syllabus of physics
class 12 syllabus of chemistry
class 12 syllabus science
class 12 syllabus ncert
class 12 syllabus of english
class 12 syllabus commerce
ARYA PUBLICATION,ADDA247,M K PANDEY,CTET MASTER,AGRAWAL EXAM CART BIHAR,MP POLICE SI PREVIOUS YEAR PAPER,English subject Questions Internal – All States,Social Science Questions Internal – English Medium,DISHA PUBLICATION ,BHARDWAJ ACADEMY,ARIHANT PUBLICATION,SBI CLERK OREVIOUS YEAR PAPER,GHATNA CHAKRA PUBLICATION,SAINIK SCHOOL PREVIOUS YEAR PAPER,RAJASTHAN POLICE SI PREVIOUS YEAR PAPER,UPCET PREVIOUS YEAR PAPER,ARIHANT PUBLICATION BIHAR,MAHAVEER PUBLICATION,RRB OFFICER PREVIOUS YEAR PAPER,SSC – INTERNAL (ENGLISH),TET – INTERNAL (ENGLISH),SBI PO PREVIOUS YEAR PAPER,USER GENERATED QUESTIONS (WEB),SSC SELECTION POST,ARIHANT PUBLICATION PUNJAB,ARIHANT PUBLICATION JHARKHAND,SSC MTS PREVIOUS YEAR PAPER,SSC GD CONSTABLE PREVIOUS YEAR PAPER,SSC CPO PREVIOUS YEAR PAPER,SSC CHSL PREVIOUS YEAR PAPERS,RRB NTPC PRACTICE PAPER AND PREVIOUS YEAR PAPERS,UPKAR PUBLICATION ,CDS PREVIOUS YEAR PAPER,MAHENDRA,LUCENT PUBLICATION,SP BAKSHI,KIRAN PUBLICATION,PUNEET DOGRA,JNVST PREVIOUS YEAR PAPER,ML KHANNA,BEIITIANS,MOTHERS,S CHAND IIT JEE FOUNDATION,MTG IIT JEE FOUNDATION,PINNACLE,BETOPPERS,CTET PREVIOUS YEAR PAPERS,VOD Doubts,CHAMPION PUBLICATION,AGRAWAL PUBLICATION,PHYSICS WALLAH,VERMA PRESS,DR. ALI,INTERNAL TESTING,MB PUBLICATION,USER GENERATED QUESTIONS NEW,LEARN X,N K GUPTA,S CHAND PUBLICATION,M TYRA,ETOOS VOD,ADVANCED MATHS BY ABHINAY MATHS ENGLISH,QUANTUM CAT,J D LEE,PEARSON,AARGON PRESS,RC MUKHERJEE,VMC WEEKLY TEST,VOD INHOUSE,VOD QUESTIONS QUIZ,LIVE CLASS COURSE INTRO,A DAS GUPTA,IA MARON,MCGROW HILL PUBLICATION,MTG GUIDE,SAT VIDEOS DONE IN HINDI,FULL MARKS,VK GLOBAL PUBLICATION,MTG-WBJEE,U-LIKE SERIES,RESNICK AND HALLIDAY,SSC PREVIOUS YEAR PAPER,IPUCET PREVIOUS YEAR PAPERS,ARIHANT SSC,MBD -HARYANA BOARD,CBSE MODEL PAPER,MODERN PUBLICATION,VIDYAMANDIR CLASSES (VMC MODULES),CBSE COMPLEMENTARY MATERIAL,WEEKLY TEST QUESTIONS,INTERNAL QUALITY CONTENT,LIVE CLASSES,VIDYAMANDIR CLASSES (VMC VOD),USER GENERATED QUESTIONS,NTA MOCK TESTS,VK JAISWAL,VIKAS GUPTA (BLAC…
Question about What Process Replaces Defective Human Genes With Normal Functional Genes
If you have any questions about What Process Replaces Defective Human Genes With Normal Functional Genes, please let us know, all your questions or suggestions will help us improve in the following articles!
The article What Process Replaces Defective Human Genes With Normal Functional Genes was compiled by me and my team from many sources. If you find the article What Process Replaces Defective Human Genes With Normal Functional Genes helpful to you, please support the team Like or Share!
Rate Articles What Process Replaces Defective Human Genes With Normal Functional Genes
Rate: 4-5 stars
Ratings: 7545
Views: 76955634
Search keywords What Process Replaces Defective Human Genes With Normal Functional Genes
What Process Replaces Defective Human Genes With Normal Functional Genes
way What Process Replaces Defective Human Genes With Normal Functional Genes
tutorial What Process Replaces Defective Human Genes With Normal Functional Genes
What Process Replaces Defective Human Genes With Normal Functional Genes free
