Duchenne Muscle Dystrophy
Introduction: “Muscular Dystrophy is a group of muscle diseases that weaken the musculoskeletal system. Muscle Dystrophies are characterized by muscle weakness, defects in muscle proteins and the death of muscle cells and tissue. Duchenne Muscular Dystrophy is one of many types found and it passed down through the X chromosome. DMD is one of the most common muscle diseases found in early childhood. 1 in 3500 boys are born with DMD however very rarely affects girls with a 1 in 50million chance. It is caused by a small mutation in the DMD gene and it is inherited by families in an X-linked recessive fashion. Those who suffer from DMD generally lose muscle function which often occurs in weakness and mostly develops …show more content…
Duchenne muscle dystrophy affects the skeletal muscles which are used for movement as well as the heart. DMD differs in severity, age of inception and the rat of progression all depending on the person. When boys suffer from DMD, muscle weakness usually appears in the early childhood years and will worsen rapidly after that. Those who are affected will have delayed motor skills such as sitting and walking. DMD is also associated with a heart condition known as cardiomyopathy. This disease weakens the cardiac muscle which in this case. Prevents the heart from pumping blood. Symptoms of a dilated cardiomyopathy can include an irregular heartbeat, shortness of breath and extreme …show more content…
There are 3 types of mutations that can be found in the DMD gene and these cause a disruption in the production of dystrophin. The three different types of mutations are large deletions, large duplications and point mutations with other small changes. When large deletions occur, pieces of the DNA are lost. This mutation causes DMD 60-70% of the time. Large duplications causes parts of the DNA to be copied. This causes DMD 10% of the time. Point mutations are the last types of mutations to occur and cause DMD 15-30% of cases. Point mutations are adjustments in the DNA sequence which are caused by a change in the nucleotide by an insertion or a deletion. The four nucleotides include Thymine (T), Adenine (A), Guanine (G) and Cytosine (C). When insertions occur, nitrogenous bases are added to the DNA sequence meaning it is a few bases longer than it should be. When a deletion occurs, a few bases are removed meaning the DNA sequence is shorter than normal. Exon skipping is the main cause of the duplications and deletions. This means that part of the coding for the gene has not taken place therefore causing a disruption in the RNA
Introduction: “Muscular Dystrophy is a group of muscle diseases that weaken the musculoskeletal system. Muscle Dystrophies are characterized by muscle weakness, defects in muscle proteins and the death of muscle cells and tissue. Duchenne Muscular Dystrophy is one of many types found and it passed down through the X chromosome. DMD is one of the most common muscle diseases found in early childhood. 1 in 3500 boys are born with DMD however very rarely affects girls with a 1 in 50million chance. It is caused by a small mutation in the DMD gene and it is inherited by families in an X-linked recessive fashion. Those who suffer from DMD generally lose muscle function which often occurs in weakness and mostly develops …show more content…
Duchenne muscle dystrophy affects the skeletal muscles which are used for movement as well as the heart. DMD differs in severity, age of inception and the rat of progression all depending on the person. When boys suffer from DMD, muscle weakness usually appears in the early childhood years and will worsen rapidly after that. Those who are affected will have delayed motor skills such as sitting and walking. DMD is also associated with a heart condition known as cardiomyopathy. This disease weakens the cardiac muscle which in this case. Prevents the heart from pumping blood. Symptoms of a dilated cardiomyopathy can include an irregular heartbeat, shortness of breath and extreme …show more content…
There are 3 types of mutations that can be found in the DMD gene and these cause a disruption in the production of dystrophin. The three different types of mutations are large deletions, large duplications and point mutations with other small changes. When large deletions occur, pieces of the DNA are lost. This mutation causes DMD 60-70% of the time. Large duplications causes parts of the DNA to be copied. This causes DMD 10% of the time. Point mutations are the last types of mutations to occur and cause DMD 15-30% of cases. Point mutations are adjustments in the DNA sequence which are caused by a change in the nucleotide by an insertion or a deletion. The four nucleotides include Thymine (T), Adenine (A), Guanine (G) and Cytosine (C). When insertions occur, nitrogenous bases are added to the DNA sequence meaning it is a few bases longer than it should be. When a deletion occurs, a few bases are removed meaning the DNA sequence is shorter than normal. Exon skipping is the main cause of the duplications and deletions. This means that part of the coding for the gene has not taken place therefore causing a disruption in the RNA