Cell Biology Diseases

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Author:
rtolly
ID:
194428
Filename:
Cell Biology Diseases
Updated:
2013-01-22 10:37:25
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Cell biology diseases
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Block 1 Exam
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  1. What disease has these  Symptoms? 
    Confusion
    Poor judgement
    Language disturbance
    Agitiation
    Withdrawal
    Hallucinations,   Seizures
    Parkinsonian features
    Increased muscle tone
    Myoclonus
    Incontinence
    Mutism
    Death from general inantion, malnutrition, pneumonia
    Alzheimer’s disease
  2. What Disease has these symptoms?
    Collection of neuropathies caused by mutations in numerous genes
    Inherited disease
    Progressive degeneration of peripheral nerves involving Schwann cells
    Slow loss of muscle control
    Bilateral foot drop
    Trouble grabbing hold of things
    Eventual muscle degeneration
    CMTX1 caused by mutation in Cx32 gene on x-chromosome (connexin)
    Charcot-Marie-Tooth disease
  3. What disease has these Symptoms? 
    Salty skin
    Increased frequency of respiratory infections
    Pancreatic insufficiency = inability to properly digest food
    Males sterile
    Mucus thick and difficult to remove
    Bacterial infections
    Death due to progressive lung disease
    Cystic Fibrosis
  4. What disease has these symptoms?
    Disorders involving collagen and connective tissue
    Six type with multiple subtypes
    Loose or hypermobile joints
    Hyperelasticity
    Hyperflexible joints
    Prone to cardiovascular issues
    Ehlers-Danlos syndromes
  5. What disease has these symptoms?
    Sever blistering skin disease
    Due to β4 integrin mutation
    Hemidesmosome disorder
    Attachment problem
    Epidermolysis bullosa simplex
  6. What disease has these Symptoms?
    Genetic predisposition to high blood cholesterol levels and heart disease
    Caused by inherited defect in gene encoding LDL receptor
    Hereditary hyperlipidemic condition
    Elevated plasma cholesterol levels
    Causes formation of atherosclerotic plaques and atherosclerosis
    LDL not taken up by cells à cells produce cholesterol
    LDL made of apoprotein B-100, ~1500 esterfied cholesterol molecules (FA), free cholesterol, and phospholipid monolayer
    LDL receptor used to recognize apoprotein B-100
    Familial Hypercholesterolemia
  7. What disease has these Symptoms?

    Pain
    Fatigue
    Jaundice
    Bone damage
    Anemia
    Even death
    Crumpled paper inclusions in macrophages
    Gaucher’s disease
  8. What disease has these Symptoms?
    Autosomal dominant mutation
    Mutation in ankyrin-1 (50%) or spectrin
    Also from defects in ankyrin, band 3, protein 4.2
    Mechanism:
    Uncoupling of lipid bilayer from cytoskeleton
    Spherocyte formation
    Cells more rigid, can’t cross spleen
    Succumb to extravascular hemolysis
    Hereditary Spherocytosis
  9. What disease has these symptoms?
    No corneal clouding
    Physical deformity
    Mental retardation
    Hunter’s Syndrome
  10. What disease has these symptoms?
    Corneal clouding
    Coarse facies
    Skeletal abnormalities
    Linear growth stops by age 3
    Hearing loss
    Progressive and profound mental retardation
    Death by caridorespiratory failure within first ten years of life
    Hurler’s Syndrome
  11. What disease progressively goes through these stages?
    Early stage:
    Subtle changes in coordination, Minor chorea, Difficulty in mental planning,  Depressed or irritable mood
    Next stage:
    More prominent chorea, Increasing difficulty with voluntary activity, Dysarthria = poor articulation, Dysphagia = difficulty swallowing
    Late stage: Behavioural problems lessened, Severe motor disability, Mute incontinent, Totally dependent
    Huntington’s disease
  12. If a patient has these characteristics, what disease are they more likely to have?
    Misfolded protein disease
    Autosomal dominant
    Polyglutamine repeat in protein Huntingtin (Htt)
    Expansion of CAG repeats à over 40 CAG repeats (normal = under 27)
    Protein aggregates, damages neurons
    Progressive disorder
    Motor, cognitive, psychiatric changes
    Onset = 35-44 years
    Survival = 15-18 years after onset
    Huntington’s disease
  13. If a patient comes in with these characteristics, which disease are they more than likely to have?
    Misfolded protein disease
    Most common neurodegenerative disorder
    50% of dementia patients over 70 years old have AD
    Dementia that begins with subtle, poorly recognized memory failure, progresses
    Typically 8-10 years
    25% is familial
    β-amyloid neuritic plaques-       intraneuronal neurofibrillary tangles-       amyloid angiopathy
    caused by abnormal cleavage of Amyloid Precursor Protein (APP)
    makes neurotoxic peptide
    Alzheimer’s disease
  14. If a patient come in with these characteristics, which disease are they more than likely to have?
    Autosomal recessive
    Mutation in cystic fibrosis transmembrane conductance regulator (CFTR)
    ABC transporter family member
    Most common CFTR mutation is ΔF508 = deletion of phenylalanine at pos. 508
    Inability of protein to escape ER
    Usually affects Caucasians
    Mutation = inability of cells to transport Cl and water to body secretions
    Absence/malfunction of CFTR channel prevents Cl movement, indirect uptake of excess Na
    Cystic Fibrosis
  15. If a patient comes in with these characteristics, which disease are they more than likely to have?
    Lysosomal storage disease
    Autosomal recessive
    Glucocerebrosidase deficiency (hydrolyzes glucoceramides = glucocerebrosides)
    Macrophage lysosomes accumulate glucocerebrosides
    Adult form: Liver and spleen enlargement,   osteoporosis
    infantile form: Mental retardation, Usually fatal
    Gaucher’s disease
  16. If a patient comes in with these characteristics, which disease are they more than likely to have?
    Lysosomal storage disease
    Accumulation of GAGs in tissues
    X-linked recessive
    Deficient iduronate sulfatase
    Degradation of heparan sulfate and dermatan sulfate affected
    Clinically similar to Hurler’s
    Hunter’s Syndrome
  17. If a patient comes in with these characteristics, which disease are they more than likely to have?
    Lysosomal storage disease
    Accumulation of GAGs in tissues
    Autosomal recessive
    Α-L-iduronidase deficiency – enzyme involved in degeneration of GAGs
    Hurler’s Syndrome
  18. What disease has these symptoms?

    Unusual facial features
    Skeletal changes
    Severe growth retardation
    Mental retardation
    Many acid hydrolases found in fluids like blood
    I-Cell disease
  19. If a patient comes in with these characteristics, which disease are they more than likely to have?
    Lysosomal storage disease
    Severe autosomal recessive
    Fibroblasts release enzymes for lysosome extracellularly
    No mannose-6-phosphate tag to send to lysosome
    Defect in protein trafficking
    Defective Golgi-specific phosphotransferase
    Loss of glycosylation
    Abnormal lysosomes in cytoplasm = inclusion-cells = I-cell
    Affected children survive 5 to 7 years
    Similar in appearance to Hurler’s
    I-Cell disease
  20. If a patient comes in with these characteristics, which disease are they more than likely to have?
    Mitochondrial disease = inherited from mother
    Age of onset = 16-50 years of age
    Acute loss of vision in one eye followed by loss in other eye within weeks-months
    Sometimes simultaneous loss of vision
    Results from inherited mutation in mitochondrial DNA:
    More than one mutation can cause disease
    At risk individuals should avoid alcohol and smoking
    Leber’s Hereditary Optic Neuropathy
  21. Which disease has these symptoms?

    Wrist: (Walker-Murdoch) = overlapping thumb and pinky on opposite wrist, Thumb joint extends past ulnar border across palm (Steinburg)

    Skeletal:
    Thin, elongated limbs (arms, fingers)
    Pectus excavatum = funnel chest
    Pectus carinatum = pushed out chest
    Hypermobile joints

    Heart:
    Cardiovascular diseases
    Mitral valve prolapsed
    Heart murmur
    Aortic rupture
    Congestive heart failure

    Eyes:
    Myopia
     Detached lenses

    Caused by mutation in fibrillin-1 (FBN-1) gene = connective tissue
    Marfan syndrome
  22. Which disease has these symptoms?

    Ear short, twisted, hypopigmented
    Hypotonia
    Failure to thrive
    Seizures at six to ten weeks of age
    Hair short, sparse, coarse, twisted, light pigment
    Jowly appearance with sagging cheeks
    Pectus excavatum = midline depression in bony thorax = “funnel chest”
    Skin laxity on nape of neck and trunk
    Umbilical or inguinal hernia
    Neurodevelopmental delays
    Menkes disease
  23. If a patient comes in with these characteristics, they are more than likely to have what disease?
    Disease of copper transport
    X-linked recessive
    Inborn error of metabolism
    Decreases cells ability to absorb copper
    Severe cerebral degeneration and arterial changes
    Death in infancy
    Diagnosed by looking at hair = whitish and kinked under microscope
    Mutations in copper-transporting ATPase gene (ATP7A)
    ATP7A can’t transport copper into cell
    Lysyl oxidase depends on copper, affected à establishes crosslinking outside
    Sulfhydril oxidase crosslinks keratin, needs copper
    Copper needed to make bone, nerve, other structures, but can’t transport
    Usually affects males
    Menkes disease
  24. What disease has these symptoms?

    Skeletal deformities, Fractures, Blue sclera
    Osteogenesis imperfect
  25. Osteogensis Imperfect has 2 Types. Which type has these characteristics?

    Autosomal dominant
    Most common, mildest
    Bones fracture easily, before puberty
    Normal stature
    Sclera usually has blue, purple or gray tint
    Triangular face
    Spinal curvature (scoliosis)
    Bone deformity absent
    Brittle teeth
    Hearing loss in early 20s/30s
    Collagen structure normal, but amount less than normal
    Type I Osteogenesis Imperfect
  26. Osteogensis Imperfect has 2 Types. Which type has these characteristics?

    Autosomal dominant
    Most severe form
    Spontaneous mutation
    Bad collagen, missense mutation
    Lethal at birth due to respiratory problems usually
    Many fractures and sever bone deformities
    Small stature
    Underdeveloped lungs
    Collagen improperly formed
    Type II Osteogenesis Imperfect
  27. What disease has these symptoms?

    Full lips, Large tongue, Flaccid position
    Pompe’s
  28. If a patient comes in with these characteristics, which disease is the patient more than likely to have?
    Lysosomal storage disease
    Type II glycogenosis
    Accumulate excessive glycogen in liver, heart and skeletal muscle
    Die at young age
    Defective α-1,4-glucosidase
    Pompe’s
  29. What disease has these symptoms?
     
    Subperiosteal hemorrhage = pain in bones and joints
    Petechial hemorrhages (corkscrew hair), ecchymoses and purpura common
    Perifollicular hemorrhages in skin (bleeding)
    Bleeding in bottom of nails
    Swollen bleeding gums
    Alveolar bone resorption = loss of teeth
    Poor wound healing
    Anemia from prolonged bleeding
    Scurvy
  30. If a patient comes in with these characteristics, which disease is the patient more than likely to have?

    Vitamin C deficiency
    Deficient for 20-40 days
    Impaired iron absorption or folic acid deficiency
    Patients have difficulty stopping infection abscesses = infections spread easily
    In children, growth failure and collagen rich structures develop abnormally
    At risk = infants, elderly men, alcoholics, smokers
    Scurvy
  31. What disease has these symptoms?
    Cherry-red spot in retina (macula) = neuronal cell death
    Blindness
    Psychomotor retardation

    Symptoms of later onset:
    Lower motor neuron dysfunction
    Ataxia due to spinocerebellar degeneration
    Vision and intelligence remain normal
    Psychosis in on third of patients
    Tay-Sachs disease
  32. If a patient comes in with these characteristics, which disease are they more than likely to have?
    Lysosomal storage disease
    Missing hexosaminidase A:
    Responsible for cleaving N-acetylgalactosamine from ganglioside GM2
    Accumulation of GM2-High incidence in Ashkenazi Jews
    Appear normal until 3-6 months of age
    Gradually progress with neurological deterioration
    Death at 2-4 years
    Tay-Sachs disease
  33. If a patient comes in with these characteristics, which disease are they more than likely to have?
    Misfolded protein disorder
    Rare, progressively neurodegenerative disorders
    Affect humans and animals
    Characteristics: Long incubation period,  Spongiform changes associated with neuronal loss, Failure to induce inflammatory response
    Cause thought to be prion protein – abnormal, transmissible
    Capable of inducing abnormal folding in cellular prion proteins
    Brain damage and signs/symptoms of disease appear
    Abnormal PrPsc is 45% β-sheets = insoluble and protease insensitive
    Creates cell surface aggregates that kill cell
    Rapidly progressive, always fatal
    Transmissible spongiform encephalopathies(prions): Creutzfeldt-Jakob
  34. If a patient comes in with these characteristics, which disease are they more than likely to have?
    Peroxisomal disease
    Affects boys
    Adrenal failure
    Neurological impairment
    Death
    Defect in integral protein for transporting very long-chain FA into peroxisome
    FA accumulate in CNS, destroy myelin sheaths
    Manifests between ages 4-8 years
    Mutated gene = ATP-binding cassette, subfamily D, member  1 = ABCD1
    X-linked adrenoleukodystrophy
  35. What disease has these symptoms?

    ADD
    Dementia
    Progressive behavioural disturbance
    Vision loss
    Difficulty understanding spoken language
    Worsening handwriting
    Incoordination
    Other neurological disturbances
    X-linked adrenoleukodystrophy
  36. What disease has these symptoms?

    Enlarged liver
    High levels of iron and copper in blood
    Vision disturbances
    Lack muscle tone/inability to move
    Mental retardation
    Seizures
    Inability to suck/swallow
    Maybe jaundice/gastrointestinal bleeding
    Zellweger’s syndrome
  37. If a patient comes in with these characteristics, which disease are they more than likely to have?
    Peroxisomal disorder
    Very severe
    Rare hereditary disorder affecting infants
    Prognosis is poor
    Death within 6 months of onset
    Caused by respiratory distress, gastrointestinal bleeding or liver failure
    Mutations in 12 genes
    Zellweger’s syndrome

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