Spinal Muscular Atrophy Research Paper

Prior to the 1980s, there was minimum knowledge relating to the causes of muscular dystrophy. However, in 1986, researchers discovered a gene, soon to be named dystrophin, on the X chromosome. The gene, when mutated, reacted by causing Duchenne muscular dystrophies. During 1987, the protein in relation to the gene discovered a year early was officially classified and named dystrophin. Duchenne Muscular Dystrophy (DMD) develops due to the mutated gene failure to supply active dystrophin. This minimum amount of dystrophin affects the body by developing muscle damage and continued weakness from early life.

What is Muscular Dystrophy, or MD for short. Muscular Dystrophy is a hereditary disease that effects the muscles which controls movement weaken overtime, and in some cases will affect the heart and other organs. Symptoms can show up in those as young as infants and can stay in those in the middle ages or older. There are nine major forms of MD including: Myotonic, Duchenne, Becker, Limb-girdle, Facioscapulohumeral, Congenital, Oculopharyngeal, Distal, Emery-Dreifuss. The form and severity vary by the age that MD occurs. Some types of MD will affect mostly males, while some people with MD will enjoy a slow progression with mild symptoms, but on the otherhand, others will experience swift and severe weakening, dying in their late teens and early 20’s. More than 50,000 Americans are affected by various types of MD.

Pathophysiology: This form of muscular disease is caused by a deficiency in motor neuron proteins called SMN or survival of motor neurons. These proteins are necessary for normal motor neuron function. The deficiency is caused by a mutation on chromosome 5 in the gene called SMN1 most commonly. The adjacent SMN2 genes can sometimes compensate for deficient SMN1 genes. Recent research has found that the lack of SMN may, also, affect muscle tissue directly and not just motor neurons.

The University of Montréal conducted a study to further findings in the very under-researched field of neuroscience and to encourage proper diagnosis within their field. Scientists there postulated that the deregulation of the function of the synapse due to a severe genetic mutation of the SYN1 gene was the causal element of disorder in both ASD and epilepsy. This synapse gene focused on is known to be necessary in the formation and development of the synaptic vesicles, which carry out communication between the neurons. . A large Montréal family was used as a sample and microsatellite markers were evenly distributed throughout. To carry out their study, many elements were included to ensure proper level of statistical significance. This included genotyping, linkage analysis, screening of DNA for possible irregularities, and additional research conducted on lab-affected mice through hippocampal cultures and

With an abnormal number of repeats the trinucleotide sequence becomes more unstable and disease symptoms grow to be more visible. Myotonic dystrophy II (DM2) is a mutation of cellular nucleic acid binding protein (CNBP), or zinc finger protein 9. The functions of both proteins, CNBP and DMPK are uncertain, however they can be found in multiple organs and tissues in the body, including the brain, cardiac, and skeletal muscles (Ueada, Ohno & Kobayashi, 2000). Myotonic dystrophy is located on chromosome 19q13.3 and is a result of an abnormal repeat of the DNA sequence. According to Mckusick & Hartz (1986) People with DM2 can have from 75 to more than 11,000 CCTG repeats. Both DM1 and DM2 are autosomal dominant inheritable disease, which can be passed along to offspring if the parent is affected, at a 50% probability. Myotonic dystrophy is unique from most provided that “disease-causing alleles may expand in length during gametogenesis, resulting in the transmission of longer trinucleotide repeat alleles that may be associated with earlier onset and more severe disease than that observed in the parent” (Bird et al., 1999).

In 1995 a French group of researchers discovered that SMA is autosomal recessive disorder due to loss of the survival motor neuron protein gene (SMN) (Lefebvre et al., 1995). Through experimentation the researchers discovered two copies of the SMN gene in chromosome five [chr 5q13.2]: telomeric and centromeric SMN copies. Experimentation proved that loss of the telomeric SMN (today known as SMN1) and not loss of its centromeric counterpart, SMN2, resulted in SMA.

When I do a puzzles almost 100% of the time puzzle pieces will fall to the ground. Most people probably wonder why this is such a big deal. Once the puzzle piece is on the ground I can’t pick it up. Why is this a problem? It’s a problem because I have Duchennes Muscular Dystrophy and I am in a wheelchair. D.M.D causes muscle weakness. Here is an example of my everyday with Duchennes Muscular Dystrophy.

Becker muscular dystrophy is a degenerative muscular disorder mainly affecting the voluntary muscles. This disease was named after the doctor who discovered it in the 1950s. BMD as it is called, affects the heart but not a severely as Duchenne muscular dystrophy. The symptoms of BMD usually start to affect the person during late childhood and adolescence. The first symptoms start with weakness in the legs and pelvis area , as well as the shoulders. It also affects the heart as the myocardium layer of heart muscle tissue slowly deteriorates. As the muscles become weaker, the patient may begin to waddle or walk on their toes to compensate for the weakness of the muscles. The respiratory system is usually the last system affected but eventually

Spinal Muscular Atrophy, also known as SMA, is the number one genetic disease killer of children under two years old. About one in every 6,000 babies are born with SMA and one in 40 people carry the gene that causes SMA. Spinal Muscular Atrophy is a genetic disease that affects the part of the nervous system that controls the muscle movement. Most of the nerve cells that control the muscles are located in the spinal cords. SMA is when there is a loss of nerve cells and protein in the spinal cord which is called motor neutrons. Motor neutron protein is necessary for muscles to function properly. This diseases weakens the muscles that affects an individual’s physical movement. Only few individuals with SMA are able to walk. This disease

Muscular Dystrophy is caused by mutations or defects in the genes responsible for healthy muscle structure and function. The mutations mean that the cells that should maintain your muscles can no longer fulfil this role, leading to muscle weakness and progressive disability. It

There are more than twenty subtypes of LGMD, each is classified according to the genetic flaws that appear to cause them. Fifteen genes that lead to the production of muscle proteins have been identified as definite causes of LGMD when they are flawed. According to the Muscular Dystrophy Association, “Type 1 LGMDs are dominantly inherited, requiring only one mutation for symptoms to result. Type 2 LGMDs are recessively inherited, requiring two mutations — one from each parent — for symptoms to appear. Sometimes, LGMDs are referred to by their names, not their numbers, and some types have not been assigned numbers.” When one of these genes is faulty and protein problems arise, muscle cells and fibers do not function properly. The muscles then

Moving into the explanation of the cause of SMA, it is important to understand the gene that has been deleted (95%-98% of cases) or mutated (2%-5% of cases) and what all it affects. As mentioned in the first paragraph, SMA is a mutation of the SMN1 gene that is responsible for producing SMN (spinal motor neuron) proteins for healthy individuals. However, in those affected by SMA, the SMN proteins aren’t produced which disables the proper functioning of the nerves that control muscles (motor neurons). This inability to properly

One such disorder is Type II Spinal Muscular Atrophy (SMA). This genetic disorder is an autosomal recessive trait that causes muscular

TGIF was also identified as a candidate gene for HPE through association studies in humans and its sequence was shown to be deleted in a subset of HPE patients (Gripp et al., 2000). However, in the mouse, deletion of TGIF1 does not lead to a HPE like phenotype in the forebrain, indicating a possible redundancy with other members such as TGIF2 (Jin et al., 2006; Shen and Walsh, 2005). Indeed, combined deletion of both TGIF1 and TGIF2 leads to severe HPE which stems from abnormal Shh signaling in the ventral forebrain (Taniguchi et al., 2012b). TGIF is also expressed in the developing roof plate and its expression is reduced significantly in roof plate ablated forebrains (Cheng et al., 2006) Although several previously mentioned studies associate TGIF with HPE, whether TGIF has any direct role in regulating roof plate development is yet to be

Along with progressive muscles weakness and muscles destruction possible secondary conditions and complications can occurs. Due to muscular dystrophy and shortening of muscles structures, patient’s mobility can be impaired. Some people will eventually need to use a wheelchair. Additionally, weakened muscles lead to the postural instability resulting in spine curvature disorders. One of the further complications are breathing problems caused by progressive weakness of diaphragm, intercostal and abdominal muscles which are required for proper breathing mechanism. In consequences of those changes patients with muscular dystrophy may eventually need to use a breathing assistance device such as ventilators. In some cases, muscular dystrophy can