Cell Bio (Block 1 Diseases)

vecobiga's version from 2016-10-01 14:17


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
Coarse facial features,short nose, slanted eyes, mental retardation, predisposition for Alzheimer'sDown Syndrome Trisomy 21
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
Male, feminine features, tall, breast development, osteoporosis, microchordismKlinefelter- XXY
Female, small stature, growth and developmental problems, possibly sterile, webbed neckTurner- 45-x
Microcephaly, atrial septal defects, cleft lip, cryptochordism.Patau's Trisomy 13
Open cranial sutures, mental retardation, short sternum, abnormal kidneysEdward's Trisomy 18
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
CGG repeat in 5'UT region, hypermethilates and shuts down transcriptionFragil X
Macrochordism, mental retardation, Coarse facial features, more than 200 repeats is mutationFragil X
LMNA gene is mutated, does not create Lamin A protein, Nuclear Lamina doesn't formHutchinson-Gilford Progeria
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
Rapid aging, Cardiovascular problems before 10 years of ageHutchinson Gilford Progeria
X-linked: mutation in nuclear membrane protein Emerin
Non- X linked: Mutation in LMNA Gene
Stiffness in joints by 10, cardiovascular problems by 20
Emery Dreyfus
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
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)
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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