Causes Of Mitochondrial Disease

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

Mitochondria, dubbed the ‘powerhouse of the cell’, are a type of organelle present in most human cells. Their primary function is to generate Adenosine Triphosphate (ATP), the cell’s principal source of chemical energy. Unlike most other organelles, mitochondria store their own set of genetic material, distinct from the DNA situated in a cell’s nucleus. Although this ‘mitochondrial genome’ represents only 0.1% of a cell’s genetic information, it often plays a significant role in development.

A boy was born with this syndrome and had to be put on dialysis one year after being born for 10 hours every day for two years.

Symptoms of this disorder are: salty tasting skin, Persistent coughing, Frequent lung infections, wheezing or shortness of breath, and poor growth or weight gain in spite

There is Duchenne, Becker, Congenital, Myotonic, and Limb- Girdle. Duchenne is a type that is the most common. The cause of this is in the legs and the upper arms. As most of these types, Duchenne is more common in young males. With having Duchenne muscular disease, the patient would be in a wheelchair. For Becker’s dystrophy, this is the less severe one. The weakness of the muscles is a slow process. With this disease, the older you are, if a male, the more complications and difficulties the patient would have. Limb girdle dystrophy is muscle weakness around the top of the arms and legs. This type of disease can affect men and women. This muscle dystrophy can cause weakness of the heart as a side effect (Jama Network, Vol 306). Congenital muscular dystrophy is the rare type, and affects babies at birth. Some symptoms of this disease would be poor head control, therefore, this makes the baby seem floppy. The muscle weakness for this disease is severe (virtual database, muscular dystrophy). Learning disorders, poorer outlook or breathing problems are some symptoms for congenital muscular dystrophy. Foremost, Myotonic dystrophy affects the facial muscles. This disease is the relaxation of the muscles after they contract, affecting the central nervous system as well. They first symptoms usually appear in the face or the neck. Some symptoms for this dystrophy would be weight loss, difficulty swallowing, or complications

Mitochondrial Neurogastrointestinal Encephalopathy disease (MNGIE) is an extremely rare disease that affects the process of muscles and shows up in equal numbers of men and women. Only 70 cases of this disease have been reported. A mutation of the thymidine phosphorylase causes MNGIE and lowers the production of adenosine triphosphate production.

According to The U.S. National Library of Medicine (November 1, 2016), The mitochondrial gene most commonly mutated by Leigh’s syndrome is MT-ATP6 which provide instructions for a protein that makes up one part of complex V, an important enzyme in oxidative phosphorylation that generates ATP in the mitochondria. The mitochondrial gene mutations that cause Leigh syndrome impair oxidative phosphorylation. Although the mechanism is unclear, it is thought that impaired oxidative phosphorylation can lead to cell death in sensitive tissues, which may cause the signs and symptoms of Leigh syndrome. This organelle is very important to each cell in all that I read there is very little that can be done and will most likely result in death. Based on several sources there is no treatment for Leigh’s Disease The Gale Group (2005), states that Treatment for Leigh syndrome is aimed at easing the disease-related symptoms and involves neurologists, pediatricians, clinical geneticists, nurses, and other related caretakers. Psychological counseling and support for family members caring for a child with Leigh disease is often encouraged. Currently, there is no treatment that is effective in slowing the progression of Leigh disease. Thiamine or vitamin B1 is

Muscular dystrophy is a genetic disorder that causes progressive deterioration of muscles. This essay is going to focus on Duchenne Muscular Dystrophy (DMD) as it is the most common type of muscular dystrophy in Australia and throughout the world. It is also one of the most severe forms, with many patients in wheelchairs by their mid-teens (Muscular Dystrophy Foundation, 2014). It is estimated that DMD affects 1 in 5000 boys and patients will present with symptoms around the age of 4. Patients may have a range of symptoms including; motor delays, abnormal walking, difficulty getting off the ground, frequent falls and learning difficulties. Eventually DMD can manifest into cardiac and respiratory problems (Yiu and Kornberg, 2015).

A muscular dystrophy is a group of diseases that is associated with progressive weakness and loss of an individual’s muscle mass. The condition causes the abnormal genes to interfere with the production of proteins needed to form healthy muscles. There is no medical cure for muscular dystrophy and related diseases, but strategies such as medication and therapy are used to manage the symptoms and slow the course of the disease. There are more than 30 types of muscular dystrophy, and the difference is based on the genes that cause it, the age when the symptoms appear first, how quickly the disease progresses and the muscles it affects (Tecklin, 2015).

Mitochondrial cytopathy is a genetic heritable disorder [5]. It occurs as a result of DNA mutation in the gem-line cells that can be transmitted to the second generation. This type of genetic disorder is often caused by mutations in the mitochondrial DMA versus the nucleic DNA. The mitochondria DNA is 20-30 times more susceptible to acquire mutations secondary to absence of DNA repair mechanisms in the mitochondria, giving rise to frequent point mutations or deletions in the mtDNA during cell division[1]. Such mutations are inherited exclusively from the maternal mitochondria. The paternal mitochondria do not contribute to the fetal mitochondria [6]. When some of the mitochondria in the ovum have mutations in their DNA, some of those defected mitochondria will go to daughter cells upon division. If the cells receiving the defected mtDNA contribute to forming tissues that are actively dividing after birth, they will be eliminated by the natural selection process after successive cell divisions. In contrast, if the cells inheriting the defected mitochondria developed into organs or tissues of limited dividing ability, this will result in problems related to energy metabolism in that organ [6]. Due to the random nature of the process, defected mitochondria may end up randomly in different types of tissue and at different concentration. This explains the variations in the manifestation, progression, prognosis and severity of the disorder.

Leigh Syndrome is a neurological disorder that occurs throughout the early stages of childhood (Wiley) In infancy, symptoms may include severe vomiting and respiratory issues, as well as failure to thrive (USEFUL). LS in infants causes death in up to 75% of those affected, by the time they are two or three years old they experience critical organ failure (SOLACE). And as much as 25% of LS affected people survive past their childhood which is rare but possible (SOLAC).

According to the United Mitochondrial Disease Foundation (UMDF), between 1000 and 4000 children in the United States are born with the disease annually. The disease results from the failure of mitochondria, which are specialized structures in the blood stream that functions to process oxygen and convert nutrients to energy that the body can utilize to sustain life and support growth. Mitochondrial disease is a chronic genetic disorder and there are many forms of the disease, with varying symptoms that tends to affects each sufferer differently. The handful of studies that evaluate the direct effect that marijuana has on mitochondrial disease, largely focuses on its efficacy

Leigh’s Disease is a rare genetic neurometabolic disorder. Typically you begin to notice this within the first year of the childs life. This disorder shows gradual loss of mental abilities and physical abilities such as movement. End results seem to be death due to respiratory failure within a few years. Only a very few rare cases have included adults and have had symptoms worsen slowly (Leigh syndrome - Genetics Home Reference).

Mitochondria are organelles that are considered the “power generators” within the cell. Mitochondria convert oxygen and nutrients into adenosine triphosphate (ATP), which is the energy that the cell uses. The energy is produced from the breakdown of glucose. Along with creating energy for the cell, the mitochondria also help certain cells self-destruct after they have served their purpose or if they are damaged. In the article “In cleaning up misfolded proteins, cell powerhouses can break down" by Science Daily, researchers at John Hopkins discovered that mitochondria can dispose of unwanted protein clumps. Many of the protein clumps in their experiment broke down in the cell's mitochondria. The experiment revealed that too many misfolded

Signs and symptoms include muscle spasms, epilepsy, intellectual disability, hypotonia, microcephaly, microopthalmia, colobomas (incomplete development of the retina and optic nerve), musculoskeletal abnormalities (“Aicardi syndrome - NORD (national organization for rare disorders),” n.d.), Hypertonia