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BIMM 110 > Week 4 > Flashcards

Week 4 Flashcards

1
Q

Down (T21, 1/1000)

A
  1. Can be detected via FISH

2. MR, short stature, flat face, yellow spots on eyeball, one crease on hand, tongue protrusion

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2
Q

Patau (T13, 1/10000)

A
  1. Risk increases with older pregnant women

2. Small eyes + colobama, cleft palate opening, weak muscle tones (die at infancy)

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3
Q

Edwards (T18, 1/3000)

A
  1. 10% make it over a year, few last until 30s
  2. Heart/kidney defects, no esophageal-stomach connection (part of intestine outside stomach), clenched fist, small pelvis
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4
Q

Achondroplasia (Short Limb Dwarfism, 1/20000)

A
  1. Risk increases with older men; De Novo
  2. Faulty cartilage-to-bone formation, AD with complete penetrance
    > FGFR3 mutated: G1138A and C –> G380R (paternal)
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5
Q

Women age and chromosomal aberrations

A

Immature eggs at birth –> ovaries with 1-2 million immature germ cells –> decrease with age (follicular degeneration) –> almost none at 50

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6
Q

Turner (XO in F, 1/5000)

A
  1. Short Stature, learning impaired, high CHF risk, kidney defect, infertility
  2. X and Y pair up at PAR in meiosis with possible CO
    > Result: haploinsufficiency in some X genes
    > SHOX gene is normally expressed in both M and F on PAR, but is mutated in idiopathic short stature because TF it encodes is broken –> poor osteoblast/chondryocyte development
  3. Treatment: growth hormone; estrogen placement (decrease osteoporosis and increase 2’ sex character)
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7
Q

Male Chromosome

A
  1. PAR pairs with X

2. SRY: near PAR; bad CO can translocate this to X; encodes TDF

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8
Q

XX Male (1/20000)

A
  1. SRY onto X

2. Short stature, spontaneous puberty, low testosterone (no sperm/sterile), gynecomastia

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9
Q

XY Female (1/20000)

A
  1. SRY deletion

2. Oocytes degenerate by birth (sterile), taller, no estrogen –> no puberty

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10
Q

XXY (Klinefelter, 1/1000)

A
  1. 15-20% SHOX genes escape inactivation –> height
  2. Low IQ, immaturity/shyness, poor peer relationship, long limbs/tall; hypogonadism + hypogenitalism (small testes, partial 2’ sex character, gynecomastia); high SLE
  3. Treatment: testosterone replacement
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11
Q

XYY (1/1000, #47)

A
  1. Normal sex characteristics, tall/low weight, skeletal abnormality; aggression and large facial features
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12
Q

XXX Female (1/1000)

A
  1. Can discard extra X via selective disjunction

2. Quiet infants, delayed motor/low IQ, social issues, tall

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13
Q

Severe Lupus Erythematosus (SLE, 9x in FEMALES)

A
  1. non-PAR TLR7 Gene escapes X-Inactivation in Immune cells –> B cells more active to TLR3 ligands
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14
Q

Non-disjunction + UPD

A
  1. Trisomy rescue
  2. UPD:
    > a. Silenced gene –> no gene function
    > b. Both UPD with active silenced gene (only one parent origin silenced) –> overproduction impairs normal development
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15
Q

Mitotic failure –> fertilization –> Mosaicism (Down)

A

Abnormal chromosomal segregation in rapidly dividing cells (colon) –> tumor

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16
Q

Muscle Characteristics

A
  1. Function: locomotion, valve opening, upright posture, support internal organs, heat, move blood
  2. 650 types: elasticity; needs lots of energy, nerve impulse –> contraction; highly organized
  3. Normal functioning: 1) enzyme breakdown FA/glycogen for E; 2) Structural integrity proteins; 3) mechanical cell property
17
Q

Skeletal (40%)

A
  1. (Out to in) Epi/peri (White branches)/endomysium (blood vessels) –> fascicles –> muscle fibers with microfibrils (myoblasts and many nyclei)
  2. Nerve impulse –> Ca2+ influx –> tropomyosin away from actin by troponin complex –> myosin + actin w/ ATP –> actin pulled and contraction
18
Q

Enzyme-related Muscle Disorders

A
  1. McArdle: phosphorylase
  2. Pompe: acid maltase
  3. Tarui: phosphofructokinase
  4. Forbes/Cori: debrancher enzyme
19
Q

Duchenne Muscular Dystrophy (DMD, 1/3300 males)
X-linked Recessive: Progressive Muscle Wasting
2.4 bp at xp21.2 (0.08% human genome)

A
  1. ONE OF MOST COMMON GENETIC DISEASE
  2. Hip weakness, large calves/pseudohypertrophy, heart failure, Gowers manuever
  3. Cross-section: uneven muscle fiber sizes, increase in immune cells/many nuclei; adipose fills connective
  4. xP21.2: 2/3 Familial (Mother Carrier), 1/3 Sporadic
    > Heterozygous Female: X-Autosome Translocation
    > Male: xP21.2 deletion (gene is 8x10^6 bp away from known marker)
20
Q

Random Inactivation X, X/A, A/X, A

A
  1. Lethal case:
    > 1 DMD, 2 distal Xp, partial autosome inactive
  2. Carrier Female:
    > no DMD, 1 distal Xp, 2 autosomes
21
Q

Dystrophin

A
  1. cDNA: F-actin (cytoskeletal microfilaments and thin muscle filaments) – Central Rod Domain (24 repeating units of 88-126 AA; 100-125 mm long with 3000 AA) – Cystein-Rich (280AA)+B-dystroglycan – C-terminal (420 AA with syntrophin and a-dystrobrenin binding sites)
22
Q

Dystrophin and DMD

A
  1. DMD: 100% no dystrophin or missing C-terminal
    > sarcolemma needs dystrophin for dystrophin-glycoprotein complex (DGC)
    > no DGC –> no bridge between internal contraction and EC matrix –> membrane rupture –> degeneration
23
Q

Becker Muscular Dystrophy (BMD; 1/3000 Males)

X-linked recessive; sporadic

A
  1. Apparent muscle-wasting later in life; longer life
  2. West-blot: becker 1 (smallest), becker 2 (smaller), Dystrophin (DNE)
  3. High mutation frequency: unequal CO between chromosomes with tandem repeats
    > Normal –> staggered –> recombo causes added/deleted (SPORADIC)
    > Results: ORF kept –> BMD; frameshift –> DMD
24
Q

Limb-Girdle Muscular Dystrophy

A
  1. Hips and Shoulder muscle
  2. Normal dystrophin, but LGMD1 (D) and LGMD (R)
  3. 18 different LGMD all on autosome
    > communication issue between ICM and ECM
25
Q

Dilated Cardiomyopathy (DCM)– MALES

A
  1. 60% CM, 4% population
  2. FATAL AND SUDDEN DEATH
  3. Large LV (ineffective pumping, wall-thinning, poor contractility); requires heart transplant
  4. Fatigue, SOB, poor exercise, palpitation, comorbidity
  5. 25-35% familial: viral infection, atherosclerosis, malnutrition, myocardial toxins (tobacco)
26
Q

Muscle Disorders Treatment:

A
  1. Glucocorticoids: increase muscle strength:
    > Decrease inflammation and stabilize membranes
    > Side effect: short, late puberty (bone fragility, HTN)
  2. Gene Therapy: intravascular– recombinant adeno-associated viral vectors (rAAVs) + microdystrophin gene
  3. Exon Skipping: injection of antisense oligonucleotides (stop codon/defects skipped)
  4. Ataluren (PTC124): oral–ribosomal readthrough of nonsense mutations –> bypass during translation

BIMM 110 (11 decks)

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