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Who muscular dystrophy affects?
MD is a genetic disorders in which strength and muscle bulk slowly weakens. It is caused by incorrect or missing genetic information. Without this information you can not build or maintain healthy muscles. You slowly lose the ability to walk or even sit up right. This disease can occur at any age in a persons life and there is no known cure.
What protein is missing from the generic mutation in the X-linked dystrophin gene?
The protein missing from the generic mutation in the X-linked dystrophin gene is dystrophin. Dystrophin is a key structural protein that helps maintain the integrity of muscle fibers. Its absence leads to muscular dystrophy, a progressive weakening of muscles.
What is Duchenne Muscular Dystrophy?
Duchenne muscular dystrophy (DMD) is a severe recessive X-linked form of muscular dystrophy characterized by rapid progression of muscle degeneration, eventually leading to loss of ambulation and death. This affliction affects one in 3500 males, making it the most prevalent of muscular dystrophies.A:A very simple explanation of Duchenne Muscular Dystrophy (DMD) Duchenne Muscular Dystrophy is an X chromosome-linked, inherited, progressive, muscle wasting disease, which affects approximately one out of 3,500 male children.For explaining the nature of Duchenne Muscular Dystrophy (DMD), we might start with the chromosomes.Chromosomes are specifically folded DNA molecules. We speak of chromosomes rather than DNA, because in this form the DNA molecules are visible under the microscope, therefore, distinguishable from each other.In normal circumstances we have 46 nuclear chromosomes. In certain conditions, such as cancer (for example in cancerous 'HeLa cells'), the number of chromosomes could be different. The 46 chromosomes include 2 sex chromosomes as well. We inherit 23 nuclear chromosomes (22 plus 1 sex chromosome) from each of our parent.Females have two X chromosomes (XX), males have one X and one Y (XY). They each contribute one to their child. Since the mother has two X-es, she passes down one X, therefore the father's chromosomes decides the child's sex.Duchenne muscular dystrophy arises from the mother's defective sex chromosome. The disease is a recessive trait, meaning only one of the mothers' two XX sex chromosomes is defective and the other X chromosome is able to compensate.For this reason, if she passes the disease-carrying chromosome to her daughter, the daughter's disease-free paternal X chromosome would compensate. The girl will carry, and potentially be able to pass, the faulty chromosome to her child/children, but, she, herself, will not be at all, or just mildly, affected.If, however, her son gets the disease-carrying chromosome, he will not have that opportunity; due to his Y chromosome from his father, he cannot compensate. Unfortunately, he will get the full-blown disease.While the majority of the disease are inherited from the mother, as detailed above, 'spontaneous mutations', when the damage to the gene happens in the male child, is also possible.So, what is the role of the X chromosome in that disease?The long DNA molecules, therefore their tightly packed forms, the chromosomes, have specific areas, called 'genes'. Every chromosome has its 'own' specific genes on their 'own' specific areas. Those genes have the 'blueprints', the instructions, for the body to build proteins. Proteins are compounds, specific substances, which are essential to life; they are vital for every function, feature, and aspects of the body.If a gene is faulty, inherited from either or both parents, (Duchenne muscular dystrophy is inherited only from the mother), or damaged/changed by environmental factors (like radiation, chemicals, or others), also by life style (smoking for example), then it cannot provide a correct instruction to assemble a properly working protein.The fault arise from mistakes in the instruction; some parts are missing, others are repeated, and some are changed. It is like someone is building a cupboard. If the instruction gives the wrong dimensions for some parts or even omit some others parts, then it would be impossible to build a proper cupboard.Neither can the body assemble the protein, called 'dystrophin', from the improper instruction given by the defective Dystrophin gene of the X-chromosome.Dystrophin is a muscle protein with mechanical and protective functions. It might involve in cell to cell communications, as well. Due to the lack of dystrophin protein the muscles became weaker, damage easily, and gradually break down, waste away.Symptoms (difficulty in sitting unaided, delayed start for walking, frequent stumbling and falling, difficulty in getting up, for example), could start to appear as early as one year of age, and the disease quickly progresses to the stage when the child needs a wheelchair (around 8-12 years of age).Since the disease weakens not only the skeletal muscles, but all muscles, heart rhythm and the pumping ability of the heart are also affected. Likewise, breathing becomes difficult and needs assistance as the disease progresses to those involved muscles.Lifespan, unfortunately, is not expected to extend beyond 30 years. Cure is not possible at the present.Treatments are aimed to delay the wastage, steroid medication (with Vitamin D and calcium supplement to counteract its possible bone weakening side-effect), physiotherapy, and water exercises, possibility of low frequency electrical muscle stimulation, among others.Improving the quality of the patients' life includes corrective bone surgery (bone deformities occurs frequently) to improve posture and comfort, braces, use of wheelchair (manual then electric), heart medications/treatments, assistance with breathing (ventilator, masks, others), - education/information/help to parents and carers, for example.Research is ongoing, internationally, on several possible aspects; a few examples are:· 'Gene bandage', specifically designed for the protein assembling process to 'skip over' the faulty segment of the gene, enabling the production of dystrophin,· Implantation of stem cells,· 'utrophin-based therapy', Utrophin is another muscle protein with similar function. Research going on to use it for compensate for the lack of dystrophin,· Researching a drug (recently trialled in Diabetes Type 2 research, as well), which, also, could increase the level of HSP72 (a specific protein). HSP72 expected to improve muscle function, decrease muscle break down, and increase lifespan by 20 %,· and an older research into low frequency electrical muscle stimulation.
Each dash in the structural formula of an organic molecule represents a shared?
Each dash represents a pair of shared electrons, 1 from each atom, that creates a (covalent) bond.
What teeth are herbivores missing?
Herbivores are sometimes missing the canine teeth.
Who muscular dystrophy affects?
MD is a genetic disorders in which strength and muscle bulk slowly weakens. It is caused by incorrect or missing genetic information. Without this information you can not build or maintain healthy muscles. You slowly lose the ability to walk or even sit up right. This disease can occur at any age in a persons life and there is no known cure.
What protein is missing from the generic mutation in the X-linked dystrophin gene?
The protein missing from the generic mutation in the X-linked dystrophin gene is dystrophin. Dystrophin is a key structural protein that helps maintain the integrity of muscle fibers. Its absence leads to muscular dystrophy, a progressive weakening of muscles.
What is the name of the disease that causes muscle weakening?
There are lots of conditions associated with symptoms of muscle weakening, including multiple sclerosis, polio, amyotrophic lateral sclerosis, myasthenia gravis, and nerve trauma. Are you thinking about one in particular?
If you are lactose intolerant you most likely are missing which type of molecule?
potatoes
What disease can be caused by a mutation in the dystrophin gene?
What Is Muscular Dystrophy?Muscular dystrophy (MD) is a genetic disorder that weakens the muscles that help the body move. People with MD have incorrect or missing information in their genes, which prevents them from making the proteins they need for healthy muscles. Because MD is genetic, people are born with the problem - it's not contagious and you can't catch it from someone who has it. MD weakens muscles over time, so children, teens, and adults who have the disease can gradually lose the ability to do the things most people take for granted, like walking or sitting up. Someone with MD might start having muscle problems as a baby or their symptoms might start later. Some people even develop MD as adults.Several major forms of muscular dystrophy can affect teens, each of which weakens different muscle groups in various ways:Duchenne (pronounced: due-shen) muscular dystrophy (DMD), the most common type of the disease, is caused by a problem with the gene that makes a protein called dystrophin. This protein helps muscle cells keep their shape and strength. Without it, muscles break down and a person gradually becomes weaker. DMD affects boys. Symptoms usually start between ages 2 and 6. By age 10 or 12, kids with DMD often need to use a wheelchair. The heart may also be affected, and people with DMD need to be followed closely by a lung and heart specialist. They can also develop scoliosis (curvature of the spine) and tightness in their joints. Over time, even the muscles that control breathing get weaker, and a person might need a ventilator to breathe.Becker muscular dystrophy (BMD), like DMD, affects boys. The disease is very similar to DMD, but its symptoms may start later and can be less severe. With BMD, symptoms like muscle breakdown and weakness sometimes don't begin until age 10 or even in adulthood. People with BMD can also have breathing, heart, bone, muscle, and joint problems. Many people with BMD can live long, active lives without using a wheelchair.Emery-Dreifuss (pronounced: em-uh-ree dry-fuss) muscular dystrophy (EDMD) typically starts causing symptoms in late childhood to early teens and sometimes as late as age 25. EDMD is another form of muscular dystrophy that affects mostly boys. It involves muscles in the shoulders, upper arms, and shins, and it often causes joint problems (joints can become tighter in people with EDMD). The heart muscle may also be affected.Limb-girdle muscular dystrophy (LGMD) affects boys and girls equally, weakening muscles in the shoulders and upper arms and around the hips and thighs. LGMD can begin as early as childhood or as late as mid-adulthood, and it often progresses slowly. Over time, a wheelchair might be necessary to get around. There are many different types of LGMD, each with its own specific features.Facioscapulohumeral (pronounced: fa-she-o-skap-you-lo-hyoo-meh-rul) muscular dystrophy (FSHD) can affect both guys and girls, and it usually begins during the teens or early adulthood. FSHD affects muscles in the face and shoulders and sometimes causes weakness in the lower legs. People with this type of MD might have trouble raising their arms, whistling, or tightly closing their eyes. How much a person with this form of muscular dystrophy is affected by the condition varies from person to person. It can be quite mild in some people.Myotonic (pronounced: my-uh-tah-nick) dystrophy (MMD) is a form of muscular dystrophy in which the muscles have difficulty relaxing. In teens, it can cause a number of problems, including muscle weakness and wasting (where the muscles shrink over time), cataracts, and heart problems.Congenital muscular dystrophy (CMD) is the term for all types of MD that show signs in babies and young children, although the MD isn't always diagnosed right away. Like other forms of MD, CMD involves muscle weakness and poor muscle tone. Occurring in both girls and boys, it can have different symptoms. It varies in how severely it affects people and how quickly or slowly it worsens. In rare cases, CMD can cause learning or intellectual disabilities.The life expectancy (in other words, how long a person may live) for many of these forms of muscular dystrophy depends on the degree to which a person's muscles are weakened as well as how much the heart and lungs are affected
What is Duchenne Muscular Dystrophy?
Duchenne muscular dystrophy (DMD) is a severe recessive X-linked form of muscular dystrophy characterized by rapid progression of muscle degeneration, eventually leading to loss of ambulation and death. This affliction affects one in 3500 males, making it the most prevalent of muscular dystrophies.A:A very simple explanation of Duchenne Muscular Dystrophy (DMD) Duchenne Muscular Dystrophy is an X chromosome-linked, inherited, progressive, muscle wasting disease, which affects approximately one out of 3,500 male children.For explaining the nature of Duchenne Muscular Dystrophy (DMD), we might start with the chromosomes.Chromosomes are specifically folded DNA molecules. We speak of chromosomes rather than DNA, because in this form the DNA molecules are visible under the microscope, therefore, distinguishable from each other.In normal circumstances we have 46 nuclear chromosomes. In certain conditions, such as cancer (for example in cancerous 'HeLa cells'), the number of chromosomes could be different. The 46 chromosomes include 2 sex chromosomes as well. We inherit 23 nuclear chromosomes (22 plus 1 sex chromosome) from each of our parent.Females have two X chromosomes (XX), males have one X and one Y (XY). They each contribute one to their child. Since the mother has two X-es, she passes down one X, therefore the father's chromosomes decides the child's sex.Duchenne muscular dystrophy arises from the mother's defective sex chromosome. The disease is a recessive trait, meaning only one of the mothers' two XX sex chromosomes is defective and the other X chromosome is able to compensate.For this reason, if she passes the disease-carrying chromosome to her daughter, the daughter's disease-free paternal X chromosome would compensate. The girl will carry, and potentially be able to pass, the faulty chromosome to her child/children, but, she, herself, will not be at all, or just mildly, affected.If, however, her son gets the disease-carrying chromosome, he will not have that opportunity; due to his Y chromosome from his father, he cannot compensate. Unfortunately, he will get the full-blown disease.While the majority of the disease are inherited from the mother, as detailed above, 'spontaneous mutations', when the damage to the gene happens in the male child, is also possible.So, what is the role of the X chromosome in that disease?The long DNA molecules, therefore their tightly packed forms, the chromosomes, have specific areas, called 'genes'. Every chromosome has its 'own' specific genes on their 'own' specific areas. Those genes have the 'blueprints', the instructions, for the body to build proteins. Proteins are compounds, specific substances, which are essential to life; they are vital for every function, feature, and aspects of the body.If a gene is faulty, inherited from either or both parents, (Duchenne muscular dystrophy is inherited only from the mother), or damaged/changed by environmental factors (like radiation, chemicals, or others), also by life style (smoking for example), then it cannot provide a correct instruction to assemble a properly working protein.The fault arise from mistakes in the instruction; some parts are missing, others are repeated, and some are changed. It is like someone is building a cupboard. If the instruction gives the wrong dimensions for some parts or even omit some others parts, then it would be impossible to build a proper cupboard.Neither can the body assemble the protein, called 'dystrophin', from the improper instruction given by the defective Dystrophin gene of the X-chromosome.Dystrophin is a muscle protein with mechanical and protective functions. It might involve in cell to cell communications, as well. Due to the lack of dystrophin protein the muscles became weaker, damage easily, and gradually break down, waste away.Symptoms (difficulty in sitting unaided, delayed start for walking, frequent stumbling and falling, difficulty in getting up, for example), could start to appear as early as one year of age, and the disease quickly progresses to the stage when the child needs a wheelchair (around 8-12 years of age).Since the disease weakens not only the skeletal muscles, but all muscles, heart rhythm and the pumping ability of the heart are also affected. Likewise, breathing becomes difficult and needs assistance as the disease progresses to those involved muscles.Lifespan, unfortunately, is not expected to extend beyond 30 years. Cure is not possible at the present.Treatments are aimed to delay the wastage, steroid medication (with Vitamin D and calcium supplement to counteract its possible bone weakening side-effect), physiotherapy, and water exercises, possibility of low frequency electrical muscle stimulation, among others.Improving the quality of the patients' life includes corrective bone surgery (bone deformities occurs frequently) to improve posture and comfort, braces, use of wheelchair (manual then electric), heart medications/treatments, assistance with breathing (ventilator, masks, others), - education/information/help to parents and carers, for example.Research is ongoing, internationally, on several possible aspects; a few examples are:· 'Gene bandage', specifically designed for the protein assembling process to 'skip over' the faulty segment of the gene, enabling the production of dystrophin,· Implantation of stem cells,· 'utrophin-based therapy', Utrophin is another muscle protein with similar function. Research going on to use it for compensate for the lack of dystrophin,· Researching a drug (recently trialled in Diabetes Type 2 research, as well), which, also, could increase the level of HSP72 (a specific protein). HSP72 expected to improve muscle function, decrease muscle break down, and increase lifespan by 20 %,· and an older research into low frequency electrical muscle stimulation.
What is a molecule with an overall positive or negative charge called?
An ion is a charged molecule. It is either positively or negatively charged due to the amount of electrons it is missing (+) or has extra (-). A charged molecule is said to be Ionized.
What substance that is produced when oxygen reacts with body compounds and forms a very unstable molecule that is missing an electron?
free radical
Whats the problem with carbon monoxide to do with a missing atom?
Carbon dioxide has one carbon and two oxygen molecules. Carbon monoxide has one of each. So the answer is: one "missing" oxygen atom if you are looking at it from the perspective of a carbon dioxide molecule.
What is 2 carbon plus 5 hydrogen?
A molecule of ethane with one hydrogen missing. If you can find a spare OH to stick on there instead of just a hydrogen, then you have a complete molecule of ethanol, which is much more interesting to have at the end of a hard day in the lab.
What do the abramovici twins look like in batman arkham city?
They look like huge, muscular men. They are both missing one arm, as they were born as conjoined twins and were joined at the shoulder. Hammer has clown make-up on, is missing his left arm, and holds a huge sledgehammer in his right. Sickle is missing the right arm, and has a sickle in the other. Both have numerous tattoos, Sickle has the Penguin's mark on his chest.
Which inorganic compound essential to cells is missing from the chart and what function does it serve in cells?
The missing inorganic compound essential to cells is water (H2O). Water plays a crucial role in various cellular functions, including serving as a solvent for metabolic reactions, maintaining cell structure, and regulating temperature through its high heat capacity.
