The Role Of Birt Hogg Dube ( Bhd ) Syndrome

Waardenburg Syndrome is a group of genetic conditions that can lead to hearing loss and changes in the color of hair, skin, and eyes (Genetics 2013). Cases of Waardenburg Syndrome are not very common. There are different types of symptoms of the syndrome. Waardenburg Syndrome can be inherited either on an autosomal dominant pattern or autosomal recessive pattern (Calendar 2013). The ways of diagnosing Waardenburg Syndrome include certain tests to detect the disorder. While Waardenburg Syndrome cannot be cured, treatments can be given to lessen the effects. Like other diseases, Waardenburg Syndrome has certain symptoms, inheritance patterns, diagnosis and treatments.

Hutchinson-Gilford Progeria Syndrome other wise known as “Progeria”, or “HGPS”, is a very rare, and fatal genetic disorder characterized by an appearance of accelerated aging in young children. The rate of aging is accelerated up to seven times that of a normal life span in first 13 years of life. Progeria comes from the Greek word (πρό), “pro” meaning premature and (γῆρας), “gerias” meaning old age. While there are different forms of Progeria, the most sever form of progeria is formally known as Hutchinson-Gilford Progeria Syndrome, which was named after the doctors in England: in 1886 by Dr. Jonathan Hutchinson who described the syndrome, and by Dr. Hastings Gilford who independently discovered it in 1904 (Jameson).

People with this inherited disorder are likely to develop several kinds of tumors, including, in some cases, renal cell carcinoma.

Its locus is particularly amplified in these noted tumours leading to the progression of these cancers, it can be suppressed by p53 (tumour/ proliferation suppressor) which represses the EZH2 promoter, resulting inhibition of cell proliferation and invasion (Bracken, 2003; Xiao, 2011).

Usher syndrome is a genetic disorder that causes its victims to get retnis pigmentosa (RP), or a disease that affects someone’s retinas resulting in tunnel vision, and hearing loss. The most common gene that becomes mutated is gene USH2A, this is a protein producing gene. It is a mutated recessive gene, meaning that in order to inherit Usher syndrome both parents have to be carriers of it. Once the child gets Usher syndrome, they will experience loss of eyesight and hearing.

What are the most common genetic/chromosome changes related to this form of cancer? Which genes are responsible? Where are these genes located? How are the genes different from normal individuals?

After searching protein databases, ULK1 was determined to have the motif that best matched the optimal substrate motif for AMPK – due to the presence of four highly conserved phosphorylation sites (Ser 467, Ser 555, Thr 574, and Ser 637). Once that was done, a multitude of methods were performed in order to fully understand how ULK1 phosphorylation by AMPK is related to mitochondrial homeostasis and cell survival when

people with Cystic Fibrosis. Most of these mutations change single protein amino acids in the CFTR

Children and adults alike often get overmedicated for ADHD. ADHD is a genetic brain disorder. ADHD stands for Attention-deficit-hyperactivity disorder and on average 11% of children are diagnosed with it from ages 4-17. The side effects of ADHD medication shock parents, the common side effects include sleep deprivation, decreased appetite, headaches, and mood swings. The medication can also cause side effects such as an increased chance of depression and sudden death.

Recurrent epistaxis is one of the diagnostic criteria for Hereditary Hemorrhagic Telangiectasia (HHT). HHT is an autosomal-dominant disorder that is also depicted by skin and mucosal telangiectasias. Feared complications of HHT include rupture of pulmonary or cerebral arteriovenous malformations (AVM). The etiology of HHT is most often due to genetic mutations that impair normal angiogenesis. We report a case of suspected HHT in a 49-year-old female, with a first-degree relative with HHT, and a history of recurrent epistaxis status post coiling of left and right internal maxillary arteries. Of special note, her initial hemoglobin level was 1.7, but she was alert and walking at triage. Her presentation was consistent with multiple prior admissions in the past three years. Patients with suspected hereditary telangiectasia should receive a comprehensive work up, including serum studies, imaging, and possibly genetic testing. Treatment should focus on both acute management of the bleed and prevention of future complications.

A young man with Bardet-Biedl syndrome helps protect an Iranian Immigrant from the authorities and his own bitter brother.

Since evidence has established FLCN-FNIP complex as a positive amino acid stimulator for mTORC1 activation and there are multiple amino acid sensors for different individual amino acids, does FLCN specifically recognize a certain amino acid and how does it “sense” the levels of this amino

It occurs due to a lethal autosomal dominant gene of a genetic mosaicism. Their studies showed that RASopathy mutations were activated in the HRAS or KRAS genes which in return activated the RAF-MEK-ERK signaling pathways. These pathways control cell proliferation, survival and differentiation (Levinsohn, Tian and Boyden 2013). This increased cellular proliferation which is why linear nevus sebaceous syndrome is linked most commonly to the HRAS and KRAS genes. The studies of Levinsohn, Tian and Boyden (2013) showed that the mutations of these genes begins during the development of the fetus which is why only 0.3% of infants are born with the lesions. To determine the exact cause of LNSS Wang, Qian and Wu (2015) used an Ion Torrent Personal Genome Machine to target next-generation sequencing. This is designed to translate chemically encoded information such as the bases of DNA and construct a library based on the information received. A long range PCR of the HRAS and KRAS genes was also used and the results showed a missense mutation in mainly the KRAS gene, more specifically in exon 1 which showed an amino acid substitution. On the other hand, Happle (2013) and Groesser, Herschberger and Ruetten (2011) used Sanger sequencing and a snapshot multiplex assay of RAS and found mutations of HRAS and KRAS in 97% of the sebaceous nevi. Their studies also showed that 95% of the lesions were produced from mutations involving the HRAS gene and only 5% were produced from the KRAS gene. A deep tumor analysis of these mutations proposed that the HRAS was exclusively found in the lesioned skin while the KRAS gene was found only in the lesional tissue. Another study done by Levinsohn, Tian and Boyden (2013) included five separate cases of LNSS and an Exome sequence was performed of their paired DNA. Their conclusions were just like those

A genetic disorder, such as DiGeorge syndrome, is an illness caused by one or more abnormalities, which can be passed down through parents, DNA, or mutations. DiGeorge syndrome (DGS) is a rare type of a genetic disorder which is caused by the deletion of chromosome 22. DiGeorge syndrome affects many parts of the body and has a prevalence of 1: 4000

The first role is that there is a predisposition to cancer development, meaning that a mutation in Mlh1 or Msh2 provide alternate causes for LS2,5. These mutations are distinguished because of the presence of CpG islands and following transcriptional loss of single genetic alleles of the affected gene, which results in the comparison of a heterozygous mutation2,10. CpG islands are clusters of the sequence CG which may be gathered near promoter regions in a gene10. Another role is when the Lynch-associated tumors developed as a result a somatic loss-of-function of the last normal allele of the mutated gene2. Somatic loss-of-function is a genetic change that takes place in a somatic cell, but the change is not aquired2,10. Finally, the last role is the role of more derived epigenetic changes that may be gained to assist the growth and advancement of associated Lynch tumors2. The studies of these roles have shown that tumor suppressor genes occur within Lynch syndrome