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Huntington's Disease

First described in 1872 by Dr. George Huntington, HD is an autosomal dominant disorder that causes progressive degeneration of neurons in the brain- most importantly, a deep region called the striatum. This neuronal loss impacts a person's ability to function and results in movement, cognitive, and psychiatric disorders. Symptoms typically develop between the ages of 30 and 50. The disease is caused by a genetic defect on chromosome 4. The disease results when a certain part of the DNA is repeated and thus becomes longer. The mutation was identified in 1993 as an unusual expansion of CAG trinucleotide repeat sequences coding for a polyglutamine track within exon one. The more repeats, the earlier symptoms tend to begin, and the worse the symptoms often are. Because of its mechanism of inheritance, individuals with one affected parent will have at least a 50% chance of getting the disorder. Since symptoms do not develop typically until after childbearing age, or after many individuals have already had kids, individuals may not know they are affected and passing on the disorder to their children. Genetic testing procedures are advised and available for people who wish to know if they contain the genetic defect and are at risk of developing Huntington's disease, for people who need to confirm a diagnosis, or for people who are interested in having children. There are many ethical and moral issues surrounding the testing for a positive Huntington's genetic predisposition. Many people do not want to be tested if they are not showing symptoms because it can feel like a death sentence and drastically change their lives. Others, who want to be tested, know that their results can implicate others in the family who may not wish to see into their genetic futures. The testing process involves mental and psychiatric evaluations as well as genetic counseling. Many feel that there is a large discrepancy in what we can know as far as being predisposed to HD and what can actually be done about it. There certainly is a rift between a diagnosis and a cure. In addition, a positive genetic test may cause job loss and difficulty attaining or keeping health coverage. Prenatal testing is also available to determine if a fetus is a carrier of the gene. Prenatal testing can also be used in conjunction with in vitro fertilization techniques to selectively choose embryos for implantation. There are some treatment options for those affected with Huntington's disease which center upon quality of life care, sedatives to calm muscle movements, antidepressants for mood disorders, and dopamine precursor supplementation. L-Dopa is used in the treatment of juvenile Huntington's disease, as it is in Parkinson's, not to reverse the degeneration but hopefully to slow it down somewhat.

Anti-BDNF antibody binds against the target brain derived neurotrophic factor. BDNF is secreted by cells and expressed in the brain, heart, lung, skeletal muscle, testis, prostate, and placenta. BDNF is a neutrophin that promotes the survival and differentiation of certain neuronal populations. Defects in BDNF are the cause of central hypoventilation syndrome. Central hypoventilation syndrome, also called Ondine's curse, is a potentially fatal respiratory disorder. Affected individuals lack the automatic control of respiration that most people enjoy. Typically, one can sleep or go about their day without having to mentally think about and control the lungs to breathe. Those with central hypoventilation syndrome can suddenly stop breathing, especially while sleeping. This disease can sometimes be accompanied by Hirschsprung disease. Anti-HYPE antibody binds against the target huntington interactor protein E. HYPE is localized on membranes and ubiquitously expressed throughout the body. HYPE is an adenylyltransferase that mediates the addition of AMP to specific residues of target proteins.

 
Product Number Title Applications Host Clonality
AC16-0010 Anti-GAPDH Antibody WB, IHC(F), IHC(P), ICC, IF, IP, FC Mouse Monoclonal (6C5)
AC16-0010-01 Anti-GAPDH Antibody (AMCA) WB, IHC(F), IHC(P), ICC, IF, IP, FC Mouse Monoclonal (6C5)
AC16-0010-02 Anti-GAPDH Antibody (AP) WB, IHC(F), IHC(P), ICC, IF, IP, FC Mouse Monoclonal (6C5)
AC16-0010-03 Anti-GAPDH Antibody (APC) WB, IHC(F), IHC(P), ICC, IF, IP, FC Mouse Monoclonal (6C5)
AC16-0010-04 Anti-GAPDH Antibody (APC-Cy5.5) WB, IHC(F), IHC(P), ICC, IF, IP, FC Mouse Monoclonal (6C5)
AC16-0010-05 Anti-GAPDH Antibody (APC-Cy7) WB, IHC(F), IHC(P), ICC, IF, IP, FC Mouse Monoclonal (6C5)
AC16-0010-06 Anti-GAPDH Antibody (Avidin) WB, IHC(F), IHC(P), ICC, IF, IP, FC Mouse Monoclonal (6C5)
AC16-0010-07 Anti-GAPDH Antibody (Biotin) WB, IHC(F), IHC(P), ICC, IF, IP, FC Mouse Monoclonal (6C5)
AC16-0010-08 Anti-GAPDH Antibody (BPE) WB, IHC(F), IHC(P), ICC, IF, IP, FC Mouse Monoclonal (6C5)
AC16-0010-09 Anti-GAPDH Antibody (Cy3) WB, IHC(F), IHC(P), ICC, IF, IP, FC Mouse Monoclonal (6C5)
AC16-0010-10 Anti-GAPDH Antibody (Cy5) WB, IHC(F), IHC(P), ICC, IF, IP, FC Mouse Monoclonal (6C5)
AC16-0010-11 Anti-GAPDH Antibody (Cy5.5) WB, IHC(F), IHC(P), ICC, IF, IP, FC Mouse Monoclonal (6C5)