MT-DNA Associated Leigh Syndrome Case Study

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

In the United Kingdom alone, 150 new born children per year suffer from life threatening, mitochondrial diseases. These diseases vary in severity from person to person, making them difficult to diagnose, and they inflict an array of ailments such as neurological problems, muscle weakness, visual or auditory impairments, heart, liver, and kidney disease,

Treatment is quite limited for this sort of disorders because the genetic cause of the disorder can not be corrected but this treatment that can help the patient such as reducing the intake of food or medicines that can not be effectively metabolized. By replacing the enzyme or other chemical that is missing or inactive, to restore metabolism to as close to normal as possible is helpful (“Inherited Metabolic Disorders”, 2017). Special diets, detoxifying blood and enzyme replacements.

We’ve all heard this phrase from the kids we know and love, “I’m a big boy!” Well, progeria makes this true in a sense. According to The Mayo Clinic, Progeria, an exceptionally rare disorder, also known as Hutchinson-Gilford syndrome is defined as a progressive genetic disorder that causes children to age rapidly, beginning in their first two years of life. Now mentally these kids are as young as their own age, but their bodies are biologically much older than they should be. These kids’ bodies show symptoms like under-weight/height, large head for the face, hair loss, high pitched voice, visible veins, and wrinkled skin. Aside from this the children experience problems that normal only senior would have such as heart disease, and Arthritis.

It is caused by a defective gene for dystrophin, which is a protein in muscles. Often, people with unknown family history of the condition find that they have MD symptoms. Boys are affected by the disease not girls. Sons of female carriers have a 50-50 chance of the disease whereas daughters have a 50-50 chance of being carriers. One out of every 3,600 male infants have Pseudohypertrophic MD. Because of it being an inherited disease, the risks included are a family history of Duchenne

First, the most common, which affects 75% of the population, is resulting from de novo maternal deletions involving chromosome 15q.11.2-913. Second, approximately 25% of the population results in mutations in gene encoding the ubiquitin protein ligase E3A gene. Third, there are 2-3% whom results in AS through imprinting defects. Lastly, 2% of the population results from uniparental disomy of 15q11.2-913, where the child receives two copies of a chromosome from parent and no copies from the other parent. The image below (Figure 1) shows the different genetic mechanisms that cause Angelman syndrome. We have a side-by-side visual of the chromosome and what the defect(s) look like, and where it takes place on the maternal

Marfan syndrome is a genetic disorder that affects the body’s connective tissue that holds all of the body’s cells, organs and tissue together. Connective tissue plays an important role in helping the body grow and develop properly throughout a lifetime. Marfan syndrome primarily affects the proteins in the connective tissue all over the body. The primary protein that plays a role in Marfan syndrome is called fibrillin-1. A defect in the gene causes poor binding of fibrillin-1 to other proteins in the body, most commonly the protein named Transforming Growth Factor Beta, or TGF-β. The excess TGF-β protein accumulates in the lungs, heart, heart valves, and aorta. Once the structure of these organs are affected, their functioning

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).

Deleterious MED12 Mutation in a Patient with Mitochondrial Dysfunction Expands the Phenotype of FG Syndrome

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

There is currently no cure for this condition yet and treatment is generally based on the symptoms the individual has.

There are thousands of rare diseases known to mam kind that only affects one of every couple thousand people. Each of which have their own unique characteristics that define each disease from one another. The one disease that is closest to my last name is the Smith-Magenis Syndrome also known as (SMS). However, 1 in 25,000 are considered to have this condition but are currently not diagnosed with the disease. Although, many officials believe the number is closer to 1 in 15,000. Currently there have been no signs of this disease being inherited through genetics, this disease is caused by a deletion of a region of chromosomes. The Smith-Magenis Syndrome is a development disorder that has multiple effects on an infected person through physical appearances, speech and sleep disorders, and behavioral problems.

Mitochondrial myopathy. It is unclear which type this is, however, there is no treatment for any of the mitochondrial myopathies. Treatment is symptomatic

Current therapies are mainly targeted towards the symptoms and complications associated with the condition. Psychotic symptoms may be managed with antipsychotics like lithium and parkinsonian effects may be handled with levodopa. The prognosis is quite variable and several factors may contribute. Nonetheless, the progressive neurological dysfunction may eventually become quite debilitating and ultimately result in disability and/ or death. Genetic counseling is recommended for those affected in order to inform them of the consequences and nature of the disorder, while providing guidance with regards to family

Chromosomal abnormalities and single-gene disorders are major causes of different complicated human diseases including cancer (Grade, Difilippantonie, and Camps, 2015). Identification of chromosomal abnormalities and single-gene defects is crucial step in diagnosis and treatment of various diseases. Currently, clinical laboratories are applying different types of molecular diagnostics methods to detect chromosomal abnormalities and single-gene disorders (Mahdieh and Rabbani, 2013).