Genetic Analysis : The Nature Of The Smyd1b Gene

Muscular dystrophy is a degenerating disease, in which the skeletal muscles degenerate, lose their strength, and cause increasing disability and deformity. Muscles attached to the bones through tendons are responsible for movement in the human body, however, in muscular dystrophy the muscles become progressively weak. As the muscle fibers

Duchenne Muscular Dystrophy is a disease which causes skeletal muscle to waste away, this wasting of muscle is caused by a mutation of the dystrophin gene (Meregalli et al., 2013, p. 4251).

Each form has other subtypes, one subtype of LGMD 2 is known as LGMD 2B (dysferlinopathy). In metabolism this disorder is caused by a mutation in the dysferlin Gene (DYSF). According to Keller Metabolism and Proteomic of Limb Girdle Muscular Dystrophy Type 2B (Dysferlinopathy) dysferlin gene is on chromosome 2p13 encoding the 230 kDa protein dysferlin (Keller, 2016). As stated earlier, patients with LGMD show signs of weakness in the muscle more proximal to the body. Affected hip, shoulder and back muscles are physical signs of LGMD that can be seen by Doctors. Dysferlin, which is also known as dystrophy-associated fer-1-like protein; a protein that in humans is encoded by the DYSF gene (Keller, 2016). Dysferlin is correlated with skeletal muscle repair and plays a critical role in the cell repair processes in

The oligonucleotide antisense matches complementary to the region 107–128 of the human Smad7 mRNA sequence, and its

Muscular Dystrophy is a genetic disease in which muscle fibers are usually susceptible to damage and cause muscle wasting and weakness. There are bundles of fibers that make up muscles; proteins are involved in these muscles and help to keep the muscle working properly. If

The cause of Duchenne Muscular Dystrophy is the occurrence of mutations in the Dystrophin (DMD) gene. The cytogenetic location off the DMD gene is Xp21.2; meaning at location 21.2 on the short arm of the X chromosome from base pair 31,119,219 to base pair 33,339,609. DMD is the biggest human gene currently known and instructs for the production of a 427 kDa protein by the same name. The dystrophin protein is part of the dystrophin associated protein complex which is expressed at the sarcolema and anchors muscle cellcytoskeletons to the extracellular matrix in skeletal and cardiac muscle,

Muscular dystrophy (MD) is a genetic disorder caused by incorrect or missing genetic information that leads to the gradual weakening of the muscle cells. Various causes lead to weak and deteriorating muscles depending on the type of muscular dystrophy the patient was affected by. However, there are many causes for muscular dystrophy due to the fact that there are thirty forms of muscular dystrophy, which are categorized under several categories. All are ultimately caused by autosomal recessive, autosomal dominant, sex-linked, and random mutations in very rare cases.

Currently, there are 9 major forms of muscular dystrophy which include: Myotonic, Becker, Limb-girdle, Facioscapulohumeral, Congenital, Oculopharyngeal, Distal, Emery-Dreifuss, and Duchenne muscular dystrophy (Mayo Clinic, 2014). For the purpose of this paper, the cause, as well as the impact of Duchenne muscular dystrophy on development, will be discussed.

DMD is caused by a mutation in the X-linked dystrophin gene, which results in a dysfunctional dystrophin protein. Dystrophin is a cytoskeletal protein that provides mechanical stability to muscle cells by connecting the muscle sarcolemma to the basal lamina of the extracellular matrix (ECM), and without it there, the muscle cells typically undergo a process of degeneration and regeneration. This process is limited by the survival of satellite cells present since satellite cells can only undergo mitosis a limited amount of times. Sarcolemma instability typically results in excess intracellular amounts of both sodium and calcium, which causes ATP depletion and mitochondrial uncoupling (Horn & Schleip, 2012). Satellite cells only have a limited number times they can undergo mitosis, and once a patient can no longer generate healthy muscle cells, the patient will typically experience cell death. This cell death and necrosis usually

Gain of function (ectopic expression in the developing haltere epithelium) of each of these genes changes the haltere of the fly into a second set of wings: double-wings phenotype (GOF).

The contractile unit of a muscle cell is the sarcomere. Sarcomeres are mostly comprised of actin and myosin which pull and slide upon each other. These contractile units are linked end to end, like a chain, throughout the length of any given muscle. Certain proteins link the ends of these chains to the cell membrane. When a normally healthy individual exercises, some of these fibers, both in the sarcomere and at the connections to the cell wall, will be broken down due to damage (Leyva, 2013). Associated with this process includes the rebuilding of these fibers, in which the body builds back what was damaged stronger than before the damage occurred (Leyva, 2013). One of these end proteins is dystrophin. The purpose of this paper is to explore the implications of insufficient production of dystrophin, as in DMD.

The SMN1 gene is responsible for the creation of the SMN protein, and without this protein, the motor neurons of the spinal cord and brainstem die off and muscles weaken and waste (atrophy). Muscles used for swallowing, crawling, walking, sitting up and controlling head movement are mainly affected. If one copy of the defected gene and one regular copy of the gene are inherited, than the child will be a carrier of the disease and will not have any symptoms. There are four types of SMA, Type I, Type II, Type II, and Type IV. Each type has different symptoms, age of onset, and severity but, each type affects each person differently.

Wung, S., Hickey, K. T., Taylor, J. Y., & Gallek, M. J. (2013). Cardiovascular genomics.

The SCN5a gene is found on the third chromosome. SCN5a is mainly expressed in the heart, where expression is abundant in working myocardium and the conduction tissue. In comparison, to the sinoatrial node and atrioventricular node where expression is low. In the heart, the expression gradient of the gene ranges from the epicardium to endocardium, with higher expression of SCN5A in the endocardium compared to the epicardium. (Remme, et. al 2009).

The new findings help better understand the cardiac development and effect on clinical care for patients with CHD. In general, cardiovascular disease (CVD) is a complex disease; no one single gene mutation is responsible for it. Therefore a new genome-wide association study (GWAS) was launched to investigate a wide range of genes that is associated with the CVD.