Trinucleotide repeat disorder

Introduction The concept of an Antisense oligonucleotide (an ASO) was first introduced by Stephenson and Zamecnik, who used an antisense nucleotide to stop viral replication in cell culture[1]. The effectiveness of ASOs as treatments has already been seen in other disease, such as Vitravene (or Fomivirsen), which was the first ASO made publicly available, and is used to treat cytomegalovirus retinitis, as well as Isis 3521 which when given to lung cancer patients in addition to combination chemotherapy

whereas male, only possessing one X chromosome would be more affected. Symptoms of this mutation includes behavioral and learning disabilities, autism disorder, elongated and narrow face (macrocephaly), macroorchidism

disease has a broad impact on a person's functional abilities and usually results in movement, thinking (cognitive) and psychiatric disorders. Medications are available to help manage the symptoms of Huntington's disease, but treatments can't prevent the physical, mental and behavioral decline associated with the condition. Movement Disorders The movement disorders associated with Huntington's disease can include both involuntary movements and impairments in voluntary movements: Involuntary jerking

neurodegenerative disorder with midlife onset characterised by psychiatric, cognitive and motor symptoms"(G. Vonsattel and DiFiglia, 1998). The statistics for HD blah blah blah Like all genetic diseases, huntington 's disease has a specific inheritance pattern. Huntington disease is an autosomal disease this means that the defective gene does not occur on one of the sex chromosomes but instead it occurs on one of the other 22 chromosomes (known as autosomes). It is a also a dominant disorder so therefore

(FXS) is among the most common cause of inherited intellectual disability in humans, associated with a range of social, behavioural and cognitive impairments and it is inherited as an X-linked dominant disorder with reduced penetrance. The primary cause of FXS is the expansion of a CGG trinucleotide repeat located in the 5’ untranslated region (UTR) of the X-linked FMR1 gene. (Huddleston L.B., Visootsak J., Sherman S.L., 2014) It affects both males and females with a prevalence of 1 in 4000 males and

only needs to inherit one copy of the gene from his parent to develop the disorder. Rarely, an individual can develop the disorder, despite not having a parent carrying the gene. Discovered in 1993, the HTT gene provides information in synthesizing a protein called huntingtin (Johns Hopkins). The HTT gene is located on chromosome four. Individuals with Huntington’s disease has mutations in their HTT gene on the CAG repeat sequence. The CAG mutation leads to abnormally long huntingtin, which cuts

Kennedy Disease Kennedy disease that is progressive neuromuscular “disorder which involves disruptions in the transmission of nerve cell signals in the brain to nerve cells in the brain stem and spinal cord” (National Institutes of Health, Bethesda, MD, May 2015). This disease found in males it occurs in the average age range of 20-50 years old, the symptoms and sign happen abruptly. The characteristics of this disease could possibly be detected in earlier stages in some cases although the signs

Huntington’s disease is an inherited brain disorder that has a broad effect on a person’s physical and mental abilities. Unlike other passed down diseases, signs and symptoms of Huntington’s disease can start at any age but usually show between the age of thirty and forty. The onset of this disorder may even begin at the age of 20 or even before that and is known as the juvenile Huntington’s disease. Individuals with this disease can only live about 15 to 20 years after signs and symptoms appear

SCA2, SCA 3, SCA6, SCA7, SCA8, SCA12, SCA17 have all been linked to the same CAG trinucleotide repeat but in different varying chromosomes and loci. These are also known as polyglutamine (Poly-Q) diseases. Poly-Q proteins are extended proteins formed by an expansion of the mRNA that coded for the amino acid chain during translation. The Polyglutamine-expansion disease family encompasses at least nine heritable disorders, including Huntington disease (HD) and the spinocerebellar ataxias SCA1, SCA2,

Introduction Myotonic dystrophy (DM) is a disorder that affects multiple systems in the body. The disease is broken down into two categories, myotonic dystrophy I & II. Myotonic dystrophy can be responsible for deterioration of smooth and skeletal muscle, central nervous system, endocrine, cardiac, and ocular systems. Myotonic dystrophy can contrast from mild to severe, and has “been categorized into three somewhat overlapping phenotypes: mild, classic, and congenital” (Bird et al., 1999). Myotonic