Volume 1 Issue 1
Autism, Still A Medical Mystery?
Running Title: Autism Spectrum Disorder (ASD) and Genetic Features: Importance in Clinical Medicine!
In 1943, the well-known child psychiatrist, Leo Kanner, announced his discovery of eleven cases of a new mental disorder. He noted that «the condition differs markedly and uniquely from anything reported so far...»This condition soon became known as autism. Autism spectrum disorder (ASD) is defined by impaired social interaction as well as impaired language and communication accompanied by stereotyped/heartbreaking behavioral traits and increased restricted repetitive behaviors.
Letter to Editor
Application of Deep Sequencing on Leukemia Clinical Practice: How to Use?
Diego F. Coutinho*, Simone T. Bonecker, Ilana R. Zalcberg
The Human Genome Project (HGP) was an international collaborative research with the goal to sequence and map the whole human DNA. It was believed that determining the sequence of the base pairs (A; T; C; and G) on human DNA would allow better understanding of the genetic basis of different diseases, including cancer. The draft of the human genome published in 2001 did not ensure us the complete knowledge of diseases; however, it had started an important step to scientific research. The HGP was accomplished with first-generation sequencing (or Sanger sequencing), and this was one of the reasons it took more than 10 years to be completed and cost about $3 billion.
Sickle Cell Anemia: only one Single Point Mutation but Many Pathophysiological Issues
Danilo Grünig Humberto da Silva*
It has been 100 years since Herrick published the first medical case report of the anemia describing abnormal shapes of red blood cells (RBCs) and gave sickle cell anemia (SCA) its name. Afterwards, Vernon Ingram discovered that the defect of the disease was a single aminoacid substitution in the hemoglobin (Hb) molecule (HBBglu6val), and understanding has gradually increased since then. Even with improved knowledge of the human genome, development of new genomic tools and identification of single nucleotide polymorphisms (SNPs) associated with subphenotypes of SCA by genome-wide association studies (GWAS), and more than 100 different blood and urine biomarkers have been described in SCA.
Detection of Virulence-Associated Genes of Avian Pathogenic Escherichia Coli (APEC) Isolated from Broilers
Elsayed ME, Shabana II*, Esawy AM, Rashed AM
Escherichia coli is responsible for significant losses in the poultry industry. This study aimed to determine the prevalence, serotypes, the virulence-associated genes and the antimicrobials susceptibility of avian pathogenic E. coli (APEC) strains. A total of 1200 samples were collected from 200 birds (60 recently dead, 80 diseased and 60 apparent healthy broilers). Standard disc diffusion method used for determination of antimicrobials susceptibility.PCR used for the detection of virulence genes. Bacteriological examination revealed that E. coli was recovered from 842 samples with overall prevalence of 70.16%.
Clinical Whole Exome Sequencing in an Academic Pediatric Hospital: Analyses of the Diagnostic Odyssey
Rachel Fisher, Jessica Connor, Kathleen Collins Ruff, Valentina Pilipenko, Kejian Zhang*
Whole exome sequencing (WES) is a genetic test that sequences all protein-coding regions, exons, in a patient’s genome to identify disease causing mutations. Patients who present with complex phenotypes, may have had previous genetic testing and spent significant time searching for a diagnosis, known as a diagnostic odyssey and WES may help to end the search. WES can also detect secondary findings and/or genetic variants in disease associated genes with uncertain clinical significance.
Association between C677T MTHFR Polymorphism and H pylori Infection among Jordanian Gastric Cancer Patients
Manar Fayiz Atoum, Ahmed Mousa otoom
Methyl tetrahydrofolate reductase (MTHFR) is a key enzyme for folate metabolism. MTHFR gene encoded 5-10-methylentetrahydrofolate reductase enzyme that catalyze the reduction of 5-10 methylentetrahydrofolate to 5-methylentetrahydrofolate which is a co-substrate for the re-methylation of homocysteine into methionine, and finally to S-adenosyl- L-methionine. Reduced MTHFR gene activity result in low S-adenosyl-L-methionine activity that increased cancer risk.
Coupling of Submissiveness Trait with Higher Intelligence in Humans but not in Non-Human Primates via Low Activity Dopamine Beta Hydroxylase
Donna K. Hobgood, M.D*
Dopamine beta hydroxylase (DBH) catalyzes the conversion of the catecholamine neurotransmitter dopamine to norepinephrine, and its activity varies as a function of genetics. Dopaminergic neural tissue has roles in a wide variety of traits. In humans, submissiveness trait in tandem with higher intelligence would appear to be linked with decreased dopamine beta hydroxylase activity while in non-human primates and other animals submissiveness trait and lower intelligence are in tandem with higher DBH activity.
A Short Morpholino CAG15 Corrects Aberrant Alternative Splicing of Clcn1 and Serca1 In Vivo
Kanako Nagano#, Kurara Takagane#, Michinori Koebis, Kosuke Oana, Natsumi Ohsawa -Yoshida, Yimeng Zhao, Hiroaki Mitsuhashi, Shoichi Ishiura*
Myotonic dystrophy type 1 (DM1) is a hereditary disease associated with multisystemic disorders including myotonia, muscle weakness, and cataracts. DM1 cells express DMPK mRNA harboring expanded CUG repeats, which are responsible for sequestering MBNL1, an RNA-binding protein. MBNL1 regulates alternative splicing of several genes, and sequestration of MBNL1 in the nucleus possibly causes DM-specific symptoms such as myotonia. Therefore, it has been suggested that blocking the interaction between MBNL1 and the RNA CUG repeats would be a promising therapeutic strategy for DM1.