Muckle-Wells syndrome (MWS) is a rare genetic disorder that causes hive-like skin rashes, chills, fever, partial or total hearing loss, swollen joints, loss of kidney function, and can eventually lead to amyloidosis in some patients. Muckle-Wells syndrome is named after Thomas J. Muckle and Michael V. Wells who first described the disease in April of 1962 [1]. Muckle-Wells is in a family of diseases called Cryopyrin-Associated Autoinflammatory Syndromes (CAPS) which all are related because they are caused by a deficiency in the NLRP3 gene which is what codes for the protein Cryopyrin [2,3]. People tend to start showing symptoms as early as infancy or early childhood, and affects them for their entire lives, and if not treated can cause death…
Creutzfeldt–Jacob Disease (CJD) is a rare degenerative disease of the brain. There are around 300 cases in the United States per year (NIH). CJD is also referred to as “mad cow” disease, this is because they carry the transmissible spongiform encephalopathy (TSE) (NIH). TSEs are caused by prions.…
Project Summary Hypothesis Statement: The Atypical Protein Kinase C Zeta (PKMz) is the molecular mechanism underlying Long Term Potentiation (LTP) maintenance at the synaptic membrane. Furthermore, this process is regulated at the level of translation of a locally available pool of PKMz mRNA, and can be sustained in part by active PKMz itself, or inhibited via an activity-dependent translation block. Significance: If the effects of a true PKMz conditional knockout result in memory impairments similar to the effects of ZIP, it will validate over a decade of work supporting PKMz as the molecular basis of memory maintenance. If the conditional knockout fails to block LTP maintenance, PKMz is not the major mechanism sustaining memory and other…
Published in 2015, the Retinitis Pigmentosa article, provided by The Gale Encyclopedia of Genetic Disorders, defines retinitis pigmentosa as a disease that “refers to a group of inherited disorders that slowly lead to blindness due to abnormalities of the photoreceptors (primarily in the rods) in the retina.”. The article explained what happens throughout the eye of a retinitis pigmentosa or a RP patient. In the article readers were told how RP only affects the eye. However since most of human functions use the help of the human eye, it can majorly affect their life.…
Surprisingly, long-term depression is absent in MeCP2 null mice, and even the neurotransmission is unaltered in the hippocampus region. Researchers also investigated an alteration in the NMDA receptor in the symptomatic MeCP2 null mice. According to another author Saju Balakrishnan et al. , (2016), patch clamp electrophysiology study in the hippocampal CA1 region of the brain reveals that alteration in NMDA receptor may underlie the reduced expression of LTP in MeCP2 null mice. Electrophysiology data also reveals impairments in adenylyl cyclase, cyclic-AMP and PKA function in MeCP2 null mice leading to a reduction in LTP activity.…
So what exactly is Tourettes and who discovered TS? Tourette syndrome (TS) is a neurological disorder characterized by repetitive, stereotyped, involuntary movements and vocalizations called tics. Dr. George Gilles de la Tourette discovered this disorder in 1885 when an 86 year old french noblewoman showed symptoms of uncontrollable movements. Tourettes was then named after the brilliant french neurologist after the discovery. TS is a chronic condition that can be inherited in some cases.…
This article examines the exceptionally rare genetic disease known as Griscelli syndrome. In the first section of the text, a brief description of Griscelli syndrome and its history is given. Following the description, the genetic basis of Griscelli syndrome type 1, type 2, and type 3 is thoroughly examined. Each variation of griscelli syndrome follows the same pattern of inheritance and is generally characterized by pigmentary abnormalities in the skin and hair, however, they each display their own unique sets of associated conditions and symptoms, vary in terms of lethality, and are all associated with mutations in different genes. Researchers have found that Griscelli syndrome type 1 is directly linked to at least two mutations in the MYO5A…
FOXO6 is expressed almost exclusive in the brain (Hookman et…
Although microcephaly is common in patients with Rett syndrome it is no longer essential for a diagnosis. Recent data on Rett syndrome patients shows that patients can have Rett syndrome but the circumference of their head is considered normal for their age. Therefore, the decline in head growth may be very obvious in classical cases of Rett, but it may not be present at all in atypical cases of Rett. Therefore, microcephaly is no longer an essential criterion for a Rett syndrome diagnosis (Smeets et al.,…
Retinitis Pigmentosa is an inherited retinal disease with progressive degeneration of the photoreceptors, leading sometimes to blindness, it is well characterized by its heterogeneous genetics. The first signs can be observed in adolescence or early adulthood including night blindness and progressive loss of peripheral vision in daylight, eventually concluding in severe visual impairment, may be inherited as X-linked, autosomal dominant and autosomal recessive. Many genes had been involved with this disease. In this research work we focus on autosomal dominant retinitis pigmentosa and the splicing factor PRPF31. Degeneration of photorreceptors appear to be related with mutations in pre-mRNA splicing gene and splicing process.…
1. What is the definition of your disease? How does someone know if they have this disease? What are the typical signs or symptoms of your disease or disorder? Include a maximum of 6. What is the typical test used to diagnose someone with this disease?…
Turner's syndrome is a rare condition that affects females. It results when a sex chromosome (X chromosome) is either missing or partially missing. Turner’s syndrome can cause a lot of different medical problems such as short height, puberty failure, heart defects, learning disabilities and social adjustment problems. It is sometimes diagnosed before birth, during infancy or during their early childhood. Occasionally the diagnosis is delayed until the teen or young adult years in those who have mild signs and symptoms of Turner syndrome.…
In order to further advance our knowledge of all the mysteries of the Earth, scientists must perform experiments and research. Dr. David Kem is one of these scientists looking for answers. He and other researchers from the University of Oklahoma and Vanderbilt University have been looking closely at POTS patients and the possibility of their condition being autoimmune (The Dysautonomia Dispatch 1). The article from Dysautonomia International was published February 25th, 2014 in regards to the actual lab work done and it appears in the Journal of the American Heart Association. Dr. David Kem worked at the University of Oklahoma Health Science Center for his Clinical Studies.…
How would you feel if you were judged by how your face looks? August Pullman from Wonder, by R.J. Palacio, knows the feeling too well. He has Treacher Collins syndrome, which makes his face look different than others. This smart young boy is just starting regular school, before he was homeschooled due to his many operations. This persister wins an award for his persistence.…
Xeroderma Pigmentosum (XP) is an inherited recessive disease, this means two recessive alleles are present in an individual from their parents. This disease impairs the ability of the body to repair DNA which is damaged mainly by Ultraviolent light as well as various chemical Carcinogens. ” The most common forms of DNA damage occurs via the cross linking of adjacent pyrimidines resulting in the formation of cyclobutane pyrimidine dimers (CPDs)” (1) for example UV light will often make two T 's bases next to each other bind making a dimer. The regions of the cells that are affected by the disease are called the nucleotide excision repair (NER) enzymes. There are two types of NER that exist: global genome (GG-NER) and transcription coupled…