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Summative II Disease

Genetic/Amino Acid diseases

QuestionAnswer
Parkinson's Disease Deficiency: loss of dopamine in substantia nigra of brain through monoamine oxidase Symptoms: shaking, rigidity, difficulty moving Treatment: L-dopa, dopamine agonists
Ischemia-Reperfusion Injury Cause: electron donation to oxygen to form superoxide is increased upon reintroduction to oxygen, causing excess ROS (commonly seen during cardiovascular surgery, coronary occlusion, transplantation)
Hyperoxia Toxicity Chest pain, cough and alveolar damage within hours of 100% oxygen exposure; caused by over production of ROS in lungs
Radiation Therapy RT destroys tumor tissue by producing a directed flux of hydroxyl radicals and organic radicals
Down’s Syndrome Deficiency: three copies of chromosome 21 (trisomy 21)
Edward’s Syndrome Deficiency: trisomy 18; problems with mitotic spindle checkpoint can lead to problems in Meiosis II or Mitosis and leads to cancer
Cancer Deficiency: defefcts in tumor suppressor genes and/or oncoproteins cause inappropriate cell growth by subverting growth factor pathway and passing through cell cycle checkpoints (DNA hypomethylation)
Schizophrenia Deficiency: DNMT1 gene in GABA-ergic interneurons is over expressed; Reeling gene is hypermethylated (also occurs in psychosis and bipolar disorder)
Rett syndrome Deficiency: methylated DNA-binding protein (MECP2) on X-chromosome mutated, leading to abnormal gene expression Symptoms: girls display reduced brain growth and mental disabilities
Rubinstein-Taybi syndrome Deficiency: mutation in histone acetyltransferase, leading to hypoacetylation Symptoms: distinctive faces, mental retardation, broad thumbs, broad great toes
Spinocerebellar ataxia type-7 (SCA7) Deficiency: mutant SCA7 protein disrupts histone acetylation and expression of certain genes for brain and retinal function Symptoms: ataxia, blindness, death
Created by: chidawg243
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