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Cell Bio (Block 1 Diseases)

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wikibedo's version from 2016-09-19 18:20

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Question Answer
Protein Misfolding (compromised NS) Abnormal cleavage of Amyloid Precursor Protein on chrom 21 (Down syndrome ass.)Alzheimer’s Disease
Build up of β amyloid plaques. Protein aggregates and suffocates cell.Alzheimer’s Disease
Progressive dementia; malnutrition, agitation, withdrawal, hallucinationsAlzheimer’s Disease
TAUB – hyperphosphorylated causes neurfilbular tangles = misfiringAlzheimer’s Disease
Microfilament, Truncated Dystrophin. Slightly elevated CK level at time of onset,. Mean onset of 11years; many patients are able to ambulate well into adult life, X-linked.Becker Muscular Dystrophy
Intermembrane Ion Channel DisorderCystic Fibrosis
Mutated gene is CFTR and the mutated allele is Delta F508 (most severe)Cystic Fibrosis
CFTR gene/CFTR proteinCystic Fibrosis
Won’t have 1st bowel movement at birth. Muconium illeus. Autosomal recessive Pancreas & respiratory distress ; malnourshemnts of fat soluble vitamins.Cystic Fibrosis
Psuedomonis Aeuriginosa. Skin sweat test (NaCl or crystals). NaCl isn’t moved by transporter correctly. ASO.CFTR usually pumps Cl into nucleus; when not functioning it slows down the migration of Na into cell from airway and thus mucus has less solutes & less H20.Cystic Fibrosis
Microfilament, Absence of Dystrophin – membrane-associated intracellular protein. Increased serum creatine kinase (CK) level. Dystrophin holding actin filament to plasma membrane by linking it to IMP. Gower Maneuver.Duchenne Muscular Dystrophy
Slowly progressive degeneration of skeletal muscle. Awkward gait, inability to run/climb stairs. Lumbar Lordosis Pseudo-hypertrophy of calf. Age of onset 3-5 years. Death by 18 due to cardiorespiratory failure X-linked. Gower Maneuver. Skeletal muscle & NSDuchenne Muscular Dystrophy
Blistering skin disease can be caused by mutation in cytokeratin 5 & 14.Epidermolysis bullosa simplex (EBS)
Disease cause by mutation in Intermediate filament hemidesmosomesEpidermolysis bullosa simplex (EBS)
Receptor Mediated Endocytosis, Defect of APO B100 Protein that encodes for LDL receptor.Familial Hypercholesterolemia
Receptor dysfunction doesn’t allow LDLs to enter cell and get eating by lysosomesFamilial Hypercholesterolemia
Build up of cholesterol in blood = plaques & atherosclerosis. Homozygotes have the most severe form b/t 600-1200 mg/dL.Familial Hypercholesterolemia
Lysosomal Storage, Enzyme Missing GlucocerebrosidaseGaucher’s Disease
Accumulation of Glucocerebroside in liver, spleen, & bone marrow.Gaucher’s Disease
Hepatosplenomegally, bone erosion, Crumpled paper macrophages. Only Lysosomal disorder with bone involvement. Most common genetic mutation in Jews. Autosomal Recessive.Gaucher’s Disease
Issues with plasma membrane (Lipid Bilayer & Cytoskeleton), Affects young children; lethary, ULQ pain, Hepatosplenomagaly, Band 3: antion exchange protein: chlorine & bicarbHereditary Spherocytosis
Ankrin1 (most common) or Spectrin gene mutation. Band 4 or protein 4.2 mutation.Hereditary Spherocytosis
Uncoupling of the lipid bilayer causes spherocyte formation / rigid cells succumb to extravascular hemolysisHereditary Spherocytosis
Lysosomal Storage /Mucopolysacchardoses, Iduronate Sulfatase. Clear CorneasHunter Syndrome
Degradation of dermatan/heparin sulfate. Accumulation of glycosaminoglycans. Mild-severe mental retardation; physical deformity, X-linked; Clear CorneasHunter Syndrome
Protein Misfolding (Compromised NS), RFLP & Gel electrophoresis & HTT geneHuntington’s Disease
Polyglutamine repeat (expansion) CAGHuntington’s Disease
Chorea - involuntary jerky movements. Progressive, dysarthria and dysphagia; often totally dependentHuntington’s Disease
Lysosomal Storage /Mucopolysacchardoses α-L-iduronidase Deficiency, Corneal CloudingHurler Syndrome
Accumulation of glycosaminoglycans in various tissues Corneal Clouding, Hepatosplenomegaly. Hearing loss, mental retardation. Cardiorespiratory failure, Skeletal & course facies abnormalitiesHurler Syndrome
Lysosomal Storage, Golgi-specific phosphotransferase fails to add GlcNAc (Tag) to acid hydrolase.I-Cell Disease
Defect in protein trafficking. Build up of acid hydrolases in body fluids because it doesn’t go to lysosome and inclusion bodies in cytoplasm form . Severe growth & mental retardation. Survive only 5-7 years; skeletal changes, corneal clouding . Autosomal Recessive -can test by looking for acid hydrolasesI-Cell Disease
Disrupts Primary Cilia, Primary Ciliary dyskinesia.Kartagener’s Syndrome
Mutation in the axonemal dynein arms of cilia/flagellaKartagener’s Syndrome
Reduced or absent mucus clearance from the lungs; increased susceptibility to chronic recurrent respiratory infections. Hearing loss, infertility. Females: problems with ciliary action in fallopian tubes. Males: problems with sperm mobility. Situs inversusKartagener’s Syndrome
Mitochondrial Disorder, mutation Attacks optic nerveLeber’s Hereditary Optic Neuropathy
Classic symptom: loose vision in one eye; shortly continues to other. Age of onset occurs 16-50 years. Only inherited for mother. If mother has it she will pass it on to 100% of children; Men will not pass it on, even if they do have itLeber’s Hereditary Optic Neuropathy
PKD 1 or PKD 2 gene mutationsPolycystic Kidney Disease
Disrupts Primary Cilia. Mutations in genes encoding polycystin-1 or polycystin-2.Polycystic Kidney Disease
Polycystin 1 & 2 are essential in the formation of Ca2+ channels associated with primary cilium in the developing kidney – disrupts mechanoreceptor of these cilia Multiple large cysts in both kidneys.Polycystic Kidney Disease
Lysosomal Storage defective for of α-1,4-glucosidase (enzyme); Can’t break down glycogenPompe’s
Accumulates excessive amounts of glycogen in liver, heart, skeletal muscle. Enlarged liver; build up of glycogenPompe’s
Lysosomal Storage, Enzyme Missing: Hexosaminidase A. Accumulation of Ganglioside GM2Tay-Sachs Disease
Cherry red spots in Macula. Blindness, psychomotor retardation. Dealth ~2. Begins slow development about 5 months, prone to seizures & easily startled. Seen frequently in JewsTay-Sachs Disease
Protein Misfolding (Compromised NS), Prion induces abnormal protein folding of normal proteinsTransmissible Spongiform Encephalopathies (Prion)
Normal protein is mostly α helices; Prion contains β sheets (45%). Rapidly progressive and always fatal, Rare but fatalTransmissible Spongiform Encephalopathies (Prion)
Microfilament, unable to produce functional WASP, Lack of neutrophilsWiskott Aldrich Syndrome
Platelets have difficulties undergoing changes in shape, thus difficulty forming blood clots.Wiskott Aldrich Syndrome
Usually presents in infancy. Thrombocytopenia with intermittent mucosal bleeding, bloody diarrhea, chronic petechiae, eczema, Recurrent bacterial & viral infections (ear)Wiskott Aldrich Syndrome
Peroxisomal Transport Disorder, ABCD1 is mutated, ABCD1 is responsible for transporting long chain fatty acids into peroxisomesX-linked Adrenoleukodystrophy
Accumulation of long chain fatty acids destroy myelin sheaths = behavioral disorders, vision loss, difficulty understanding language progressive. Usually 1st diagnosed with ADD but it progresses in severity; worsening handwriting. Manifests b/t 4-8yrsX-linked Adrenoleukodystrophy
Peroxisomal Transport Disorder, Pex Protein Mutation.Zellweger’s Syndrome
Missing key protein essential for targeting peroxisomal enzymes for uptake by organelle (perox enzymes stay in cytosol).Zellweger’s Syndrome
Hypotonic “floppy baby” Neurological, visual, liver disorders leading to early childhood death. High iron and copper levels. Very rare disease, death usually occurs ~6 months after onsetZellweger’s Syndrome
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