Leigh Syndrome Summary

The genes which encode for the mitochondria’s component proteins are in 2 separate genetic systems in 2 different locations. One of which is the cell nucleus, but the other is inside the organelle itself. There are relatively few genes inside the

Hutchinson-Gilford Progeria syndrome, also known as HGPS, or Progeria, is a very rare genetic disease caused by a mutation in the cell. In 1886, Jonathan Hutchinson first reported case of a 3 ½ year old boy who had the appearance of an old man. In 1897 Hastings Gilford reported a second case with similar features. However, this mystery disease didn’t have a name until 1904, when it was named after the two men. People who have HGPS usually star showing symptoms by the age of 2, and only live to be a teen-mid-20s.

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.

The second group of demyelinating diseases,hereditary metabolic disorders, are degenerative diseases and include, among others, the eight identified leukodystrophies (5). Here, 'leuko' means 'white', and refers to the white matter (myelin sheaths) of the central nervous system, and 'dystrophy' means 'imperfect growth or development' (2).. The majority of the leukodystrophies are storage disorders, where the absence or malfunctioning of an enzyme results in the toxic accumulation of chemical substances (5) In each of the so far identified leukodystrophies only one of the

Hereditary spastic paraplegias (HSPs) are genetically heterogeneous disorders, which are characterized by lower extremity spasticity and weakness. HSP is often caused by mutations in SPG genes, but it may be also produced by inborn errors of metabolism [1,2]. Next generation sequencing (NGS) is helpful for investigating patients in whom genetics does not fully meets the clinical presentation. We performed NGS in adult twins and found compound pathogenic mutations in MTHFR and POLG1 genes, which were consistent with metabolic changes, including hyperhomocysteinemia decreased activity of MTHFR and mitochondrial respiratory chain.

An analysis of fifty-seven patients with GLUT1 deficiency syndrome was conducted by Leen and associates and seventeen different missense mutations of SLC2A1 were discovered. Of the seventeen mutations, a single nucleotide of adenine in the third helix domain of the SLC2A1 gene was substituted with a guanine. This missense mutation found on the 286th base pair caused the codon to generate the amino acid valine rather than methionine as seen on figure 2. This single missense mutation caused the classic phenotype expression of epilepsy in patient three, an 8-year-old female child. Two other patients in the study had a mutation in the third helix in the transmembrane portion of the protein, however their SLC2A1 gene contained a deletion rather than a missense

Not only do clinicians need to work with other professionals, but they also need to be aware of the other comorbidities that may be present in Noonan Syndrome. Many studies listed other cognitive functions that may be impacted by NS, and depending on the nature of the function, it could have a negative impact on language and speech. “Identification of attention problems and other psychiatric comorbidities will be an important element in developing appropriate educational and treatment goals to benefit individuals with Noonan syndrome” (Pierpont et al., 2014, p.391). Since some links have been made between Noonan Syndrome and delays in attention skills, it is important to keep in mind these associated risks and their implication on language

Leslie is a 59-year-old female diagnosed with grade 2 invasive lobular carcinoma stage IV malignant neoplasm of the left breast (Pt3, Pn2A, M1) ER/PR positive and HER-2/neu negative(C50.412), along with malignant neoplasm of overlapping sites of right female breast and secondary malignant neoplasm of bone. On 2/14/2017, she underwent a left total mastectomy with axillary sentinel lymph node biopsy/axillary lymph node sampling and right total mastectomy with axillary sentinel lymph node biopsy. She had a further evaluation with staging PET/CT on 3/13/2017. That study showed multiple foci of intense abnormal activity correlating to lytic lesions in the skeleton, consistent with widespread skeletal metastasis. Leslie’s disease if obviously

Mitochondrial dysfunction and oxidative stress have been consistently observed in brains of PD patients. There is increasing pharmacological and genetic evidence sustain a link between PD and mitochondrial respiratory chain dysfunction, particular a deficit in mitochondrial complex I (Franco-Iborra et al., 2015). Accidental exposure to 1-methyl-4-phenyl-1,2,3,4-tetrahydropyridine (MPTP), an mitochondrial complex I inhibitor, has been known to result in acute and irreversible syndrome that was almost indistinguishable from PD (Calne and Langston, 1983; Langston and Ballard, 1983). Later on, mitochondrial complex I inhibition has been identified in the brains of sporadic PD patients (Schapira et al., 1990). In addition, chronic systemic inhibition of mitochondrial complex I by pesticide rotenone has been found to link to sporadic PD (Betarbet et al., 2000). Interestingly, mitochondrial complex I deficiency has been found not only in the postmortem substantia nigra but also in cerebral cortex (Schapira et al., 1990), which is consistent to the cortical glucose hypometabolism observed in PD patients. Indeed, the pathology of PD has been found to involve several brain regions other than the SNc and many neurotransmitters other than dopamine (Lang and Obeso, 2004a, b). PD models using MPTP and rotenone have now been used extensively in PD research (Beal,

The most common cause of MT-DNA Associated Leigh Syndrome is a mutation of the MT-DNA in the patient’s genetics and is most directly related to a maternal genetic mutation, as MT-DNA is passed through egg cells.The mother of a patient diagnosed with this disease most often develop very little to no symptoms. ("Leigh Syndrome", 2016;Thorburn,2014). The likelihood of children having a MT-DNA mutation is 100%, if the mother's MT-DNA has the mutation. This is due to the fact that the genetic code of the mitochondria, as previously stated, is passed through DNA in the egg cell ("About Mitochondrial Disease", n.d.). This form of leigh’s syndrome is most commonly diagnosed within 3 - 12 months into life, and rarely presents in the teenage years into adulthood. According to Mito Action, 1 in 4000 Americans are born with a mitochondrial disease and of this approximately 25% are diagnosed with Mt-DNA Associated Leigh Syndrome ("About Mitochondrial Disease", n.d.).

or this units discussion I will be writing about Leigh’s Disease. According to the National Institute of Neurological Disorders and Stroke (December 16, 2011), “Leigh’s disease is a rare inherited neurometabolic disorder that affects the central nervous system. This progressive disorder begins in infants between the ages of three months and two years. Rarely, it occurs in teenagers and adults. Leigh's disease can be caused by mutations in mitochondrial DNA or by deficiencies of an enzyme called pyruvate dehydrogenase. Symptoms of Leigh's disease usually progress rapidly. The earliest signs may be poor sucking ability,and the loss of head control and motor skills.These symptoms may be accompanied by loss of appetite, vomiting, irritability,

Prader-Willi Syndrome causes overeating and never feeling full that leads to type 2 diabetes that can eventually lead to death. 1 in 10,000 to 30,000 people get PWS. People with PWS have chronic overeating and distinctive overeating. It is caused by loss of chromosome 15 or not getting it from the dad’s side, also the lost of the gene called (OCA2). PWS is an autosomal genetic disorder disease caused by the deletion on chromosome 15 or not getting chromosome 15 by the father. Victims with this disorder experience chronic over eating and distinctive facial features(Prader-Willi Syndrome. genetics). A treatment can be therapies.

A delusion where the person is alive but is firmly convinced they are dead. This is called Cotard delusion or walking corpse syndrome.

Primarily due to lack of knowledge or misinterpretation of the accommodation request is the reason disability and religious discrimination claims still exist (Malloy, Spencer, & Crane, 2017). I have a son who became disabled due to an asthma attack, which caused a rare disorder called Hopkins Syndrome. The disorder causes polio-like symptoms in which he has limited use of his left arm from the elbow to fingertips and no use of his right arm. During a recent meeting at his high school, the Computer Essentials instructor stated that he would not be able to meet the state-mandated requirements due to the limitations of using one hand. Upon informing her that by law, the institution is required to make reasonable accommodations to ensure that he

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).