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MCB 1 (block 3)

block three diseases

Spinal Muscular Atrophy (SMA) Symptoms: Muscle weakness/atrophy, hypotonia, dysphagia, RTI Mutated SMN -> defective snRNP -> defective splicing -> loss of motor neurons (SC/brainstem)
I-cell disease Defective GlcNAc phosphotransferase --> no M6P tag sym: slow growth, psychomotor retardation, HSmegaly, valve defects, corneal clouding
Tuberculosis interfers w/ Rab --> prevents phagolysosome formation (binding of phagosome to lysosome)
Hunter syndrome deficiency of iduronodate sulphatase X-linked Physical/mental retardation, deafness, HSmegaly, chronic diarrhea, joint stiffness, (NO corneal clouding) onset: 2-4yr survival 30+yr
Hurler syndrome deficiency of a-L-iduronidase accumulation of dermatan/heparan sulfate MR, deafness, HSmegaly, chronic diarrhea, joint stiffness, hirsutism, corneal clouding
Scheie & Hurler-Scheie syndrome residual a-L-iduronidase
Sanfilippo syndrome defect in heparan sulfate degradation AGGRESSION/MR, seizures, dementia
Morquio syndrome deficient galactosamin-6 sulphatase or B-galactosidase --> accumulation of keratan sulfate Skeletal, deafness, NORMAL IQ
Gaucher's disease deficiency of glucocerebrosidase accumulation of glucocerebroside organomegaly w/ bone marrow & CNS inflitration elongated/distended lysosomes
Pseudo-Hurler polydystrophy partial function of GlcNAc -> mild I-cell dz
Chediak-Higashi syndrome Mutant CHS1/LYST gene (lysosomal trafficking) delated phagolysosomal fusion autophagocytosis of melanosomes in melanocytes Granular defect in NK cells & Plts Albinism, chronic infections, coagulopathy,
Zellweger syndrome Mutant PEX gene peroxins don't recognize SKL -> VLCFA accumulation in tissues Neuro(seizures, MR, hypotonia/reflexia) Dysmorphic (big forehead, hypertelorism) HSmegaly
XALD defective transport of VLCFA into peroxisomes Accumulate in Brain & Adrenal cortex
Lamellar cristae located where? hepatocyte, skeletal mm & SPERM "Lamar lifts (skeletal), drank (liver) and loved (SPERM) many bitches"
Tubular cristae located where? Steroid secreting cells "its tubular to be huge"
Barth syndrome X-linked mitochondrial disorder Defective Cardiolipin Chronic weakness, cardiomyopathy, neutropenia (high infant mortality)
Huntington's disease NES is cleaved; inability to transport/nuclear membrane disorder
Rabies Confusion, agitation, delirium, hallucination, hydrophobia/photophobia. Can cause encephalitis --> malaise, fever, headache. Virus ascends to CNS along peripheral nerves
Varicella Zoster Dermatomal distribution. Lies dormant in DRG, travels down sensory nerves to skin
Familial MND dynactin p150 subunit
Familial ALS Superoxide dismutase 1 (SOD1)
Alzheimer's disease Presinilin 1/2, a/B-amyloid precursor
Dilated Cardiomyopathy Lamin A/C defect or Actin mutation
Created by: alejandrodizzle