How Can Genes Contribute to and Cure Congestive Heart Failure?

How Can Genes Contribute to and Cure Congestive Heart Failure?

It is common knowledge that heart failure follows another severe form of heart damage; however, until now scientists and doctors have had no way to identify those at risk. New research into genes and gene therapy have made them a potential weapon in the fight against heart failure.
Scientists have made several discoveries regarding the role of genes in the detection and treatment of heart failure. Several years ago it was discovered that a small percentage of patients who had suffered heart failure possessed a defect in the gene that allows the body to detect stress signals; in essence, the heart does not know that it is working to hard and is unable to adjust. This percentage may seem insignificant; however, the gene mutation was not present in any of the healthy patients examined. Researchers stress that this is a susceptibility factor, not a cause of congestive heart failure; however, it may be the breaking point when determining if a heart suffering from other disease will fail. Detection of this mutation may allow doctors to identify and treat patients at risk prior to their heart failing rather than after.

This defect is found in the ATP-sensitive potassium channels and is caused by a genetic mutation. The potassium channel regulates potassium and calcium levels in the body. While the heart must have calcium to function, an excess of calcium leads to damage. This is the reason calcium blockers are often given to patients with congestive heart failure. Fortunately, medications to open the potassium channel already exist.

In addition, a defect of the delta-sarcoglycan gene has been seen in hamsters with muscular dystrophy and cardiomyopathy. This gene is the cytoskeleton of muscle fibers, and successful transplant of a normal human delta-sarcoglycan gene has been shown to cause a tremendous improvement in these animals. This is noteworthy because current transplant attempts require open heart surgery. This type of gene transplant is carried on a virus, eliminating the need for surgery.

Scientists had been a bit concerned with using this method of gene therapy due to the need for a systemic effect. There was also some concern that the body’s natural immune system would eliminate the virus of its own accord prior to successful delivery of the gene; however, they believe they have found the best form of virus to successfully slip past the body’s defenses. When transplanting the delta-sarcoglycan gene researchers used a type eight adeno-associated virus, piggybacking the corrective gene onto it as it was inserted into the body. This allowed the gene to be carried to all areas of the body in animals with muscular dystrophy without being destroyed by the body’s own natural immunity.

Gene therapy is still highly experimental, and researchers are unsure yet of the role it will play in the conquest of heart failure; however, this represents a technology that was unavailable thirty years ago. Continuing advancements in technology and medicine’s knowledge of the body’s building blocks may one day unlock the mysteries to the cure of this deadly disease.

Scoliosis in Adolescents

Normally, a spine when viewed from rear should appear straight but if the spine is lateral or curved or sideways or rotated then it is affected by scoliosis. It gives an appearance as if the person has leaned to a side. According to Scoliosis Research Society the definition of scoliosis is the curving of the spine at an angle greater than 10 degrees on an x-ray. Scoliosis is a kind of spinal deformity and shouldnt be confused to poor posture. Usually there are 4 common kinds of patterns of curves experienced in Scoliosis which are: Thoracic wherein the right side has ninety percent curves, lumbar wherein left side has seventy percent curves, thoracolumbar wherein right side has eighty percent curves and double major where both right and left sides have curves.

In majority of the cases, as high as eight to eighty five percent, the cause of the deformity is unknown, this is also known as idiopathic scoliosis. It is observed that females have scoliosis more commonly than males. According to some established facts 3 to 5 children per 1000 has chances of developing spinal curves which is a number big enough requiring medical treatment. There are three types of scoliosis that can develop in children namely congenital, neuromuscular and idiopathic. Congenital scoliosis is seen in 1 out every 1,000 births which is caused due to vertebraes failure in normal formation, vertebrae is absent, vertebrae is formed partially and vertebrae is not separated. Neuromuscular scoliosis is linked with various neurological conditions and particularly in children who dont walk like cerebral palsy, muscular dystrophy, spina bifida, tumors in spinal cord, paralytic conditions and neurofibromatosis. The cause of third type of scoliosis called Idiopathic scoliosis is still unknown. It is further divided into infantile, juvenile and adolescent scoliosis. Infantile scoliosis occurs up to the age of 3 years from birth wherein the vertebrae curve is towards left and is more frequently observed in boys. The curve takes normal shape with the growth of child. Juvenile scoliosis is common in children of age three to nine. Adolescent scoliosis is common in kids of age ten to eighteen and this is also the most common form of scoliosis occurring more in girls than boys.

The other possible causes of the deformity include hereditary reasons, different lengths of legs, injuries, infections and tumors. There are numerous symptoms attributed to scoliosis which can vary from individual to individual. The symptoms are: Difference in heights of the shoulders, off-centered head, difference in the height or position of the hip, difference in the position or height of shoulder blade, different arm lengths in straight standing position and lastly different height back sides when the body is bent forward. Other symptoms include leg pain, back pain and change in bladder and bowel habits do not belong to the symptoms of idiopathic scoliosis and require medical checkup by a doctor. The symptoms may be similar to other problems related to spinal cord or other deformities or could result from an infection or injury and consulting a doctor is the best bet in this situation who may conduct diagnosis to know what exactly it is.

The diagnosis of scoliosis requires thorough medical history of the teenager, diagnostic tests and also physical examination. The doctor asks for entire prenatal history, birth history and also would want to know if anyone in the family has scoliosis. The doctor may also ask for the milestones related with the development of the teenager since some kinds of scoliosis are known to be related to neuromuscular disorders. The delay in development may need additional medical evaluation. Doctor may also prescribe x-ray, CT scan and MRI scan of the back to measure the degree of curvature in the spinal. There are various treatments available for scoliosis which is decided by the physician depending on teenagers age, medical history and health in general. The method of treatment also depends on the extent to which disease has reached. The tolerance of the teenager to certain medicines, therapies and procedures are also taken into consideration. Expectations and opinion of the parents or teenager is also the criteria in deciding the type of treatment. The main aim of the treatment is stop the curve from progressing and avert deformity. The treatments include observation and repetitive examinations, bracing and surgery to correct the defect.

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