NR 507 Advanced Pathophysiology Midterm Exam Study Guide

NR 507 Advanced Pathophysiology Midterm Exam Study Guide. This is a complete and an all-inclusive guide to NR 507 Advanced Pathophysiology. Epigenetics 1. Defects Iin ItheIencoding Iof Ihistone-modifying Iproteins I(Chp I6 IandI12 IwkI1) Histone modification (e.g., Ihistone acetylation and deacetylation, alterations in chromatin): Chromatin compaction and organization help to regulate gene expression, determining and maintaining cell identity. Chromatin structure must be controlled in self-renewing and differentiated cells in cell renewal systems. For example, there are differences in chromatin structure in stem cells and terminally differentiated cells are chemical modifications of DNA sequences that alter the expression of genes, resulting in disease and phenotypical variations (upon genetics) types of epigenetic modifications DNA modification histone modification Microribonucleic acids (miRNAs) or mature miRNAs specific environmental or non-genetic factors, such as diet and exposure to certain chemicals can affect epigenetic Histone modifications- in diverse biological processes such as transcriptional activation/inactivation, chromosome packaging, and DNA damage/repair. Histone modifications (e.g. histone acetylation and deacetylation, chromatin alterations)- Chromatin compaction and organization help to regulate gene expression, determining and maintaining cell identity quantitative detection of various histone modifications- would provide useful information for a better understanding of epigenetic regulation of cellular processes and the development of histone modifying enzyme-targeted drugs. Histone Modification- Results: Histone acetylation and deacetylation alterations in chromatin 2. Epigenetics IandI(45)Iits Irole Ion Ihuman Idevelopment. I(chp I6) the study of influences on gene expression that occur without a DNA change. diseases and other phenotypic variation are caused by mechanisms other than changes in the DNA sequences—termed Iepigenetics (“upon genetics”).1Epigenetics is the study of heritable changes in gene expression or phenotype caused by mechanisms other than changes in DNA sequences. Epigenetic modifications can cause individuals with the same DNA sequences (such as identical twins) to have different disease profiles 3. TotipotentIcells the zygote and early embryonic cells Totipotent stem cells mean that they can produce an entire organism like fertilized oocyte What are totipotent stem cell They are stem cell that can give rise to any and all cell of the human body. They can give rise to a entire organism. They cells are found on the first round of replication when the sperm and egg unite or at the very earliest stage of development++. and I(49)Iits Iability ItoIdifferentiate IintoIany ItypeIof Icell 50.IPrader-WilliIsyndrome and – missing the PATERNALLY imprinted copy of chromosome 15, Prader-Willi syndrome-features include short stature, hypotonia, small hands and feet, obesity, mild to moderate mental retardation, and hypogonadism behavioral characteristics of prader willi Temper tantrums Stubbornness Page 2 of 14 2 Controlling/manipulativ e Compulsivity (especially with food) Difficulty with changes in routine 10-20% young adults develop psychosis 4. Angelman Isyndrome? – loss of the maternal copy of UBE3A 2 major causes of angelman microdeletion paternal UPD phenotype of angelman syndrome severe developmental delayNO SPEECH "happy puppet" hyperactivity major seizure problem fascinated with water Angelman syndrome- same 4-Mb deletion, inherited from the mother, causes Angelman syndrome, which is characterized by severe mental retardation, seizures, and an ataxic gait. Deletions in Prader-Willi and Angelman Syndromes are identical and indistinguishable at the DNA level. Gene responsible for Anglemman syndrome encodes a ligase- involved in protein degradation during brain development. This gene is only active on the chromosome copy inherited from the mother. A maternally transmitted deletion removes- the only active copies of these Angelman Syndrome genes, producing the features of Prader Willi syndrome.