Diseases Flashcards
Trisomy 21
nondisjunction in maternal gamete/ DS
Trisomy 18
edward syndrome- clench fist low set ears cardiac issues 5-10%live past fist year
trisomy 13-
patau syndrome- heart defects/deaf most die in first month
triple x
xxx-two barr bodies mental disabilites
xxy
klinefelter- breast development sterile/long limbs/tall/
turner syndrome
one x 80% nondisjuction event in male- short lack secondary sex traits- lymphodemia of hands and feet
cri du chat
patial deltion of chromosme 5- underdeveloped larynx- growth defects cardiac defects
deletion 4q syndrome
cleft pallet limb abnomalities growth retard
angelman syndrome
microdeltion of maternal chromosome 15- unable to speak-puppet like gait-unprovoked laughter
Prader-willi syndrome
microdeltion of paternal 15-obesity-mental retard-undesended testies
blooms syndrome
1-defective BLM protein results in no recQ helicase /fucntion high risk of cancer red face rash
pyruvate kinase deficiency
hemolytic anemia- NO HEINZ bodies-increased 2,3BPG
G6PD deficiency
Hemoplytic anemia has heinz bodies-Inhibits ability to produce NADPH which allows for NADPH Oxidase to kill bacteria/allows for conversion fo met-hemoglobin back to hemoglobin/insuffucient glutothione
Lactate Dehydrogenase Deficiaiency (LDH)
Unable to carry out glycolysis under anerobic conditions
side note
2,3,BPG allows 02 to disassiote from Beta subunit of hemoglobin
Wernicke-Korsakoff Syndrome (Thiamine deficiency)
- commonly seen in alcoholics
- Ataxia
- Opthalmoplegia, nystagmus
- Memory loss and confabulation
- Cerebral hemorrhage
glukokinase deficiency
rare form of diabetes
lactic acidosis
generally from impaired pyruvatre metabolism
Huntingtons Disease
Barth Syndrome
defect in phospholipid metabolism/mutated TAZ gene nonfucntion taffazin protien =low cardiolipin which result in defected ETC complexes-Cardiomyopathy Neutropenia Growth Delay Exercise intolerance Reduced life expectancy
Blooms Syndrome
defective BLM protein =defective recQ helicase /red facila rash high risk of cancer
ALS
nuerological and muscular degeneration of motor nuerons in brain stem and spinal cord
misfolding of SOD1- effects axonal transport and mitochondrial respiration
and TDP 43-hyperphosphoralted c terminus fragments messes up mrna processing
Type II diabetes
charcterized by chronic insulin resistance loss of Beta cell function and mass/misfolding of IAAP (Amylin=cosecreated with insulin and provides satieyty signal inhibits glucogon secretion)
amyloid aggregates poke holes in mitochondria which can lead to signal it for death caspases/- also bind macrophages in pancreas casuing inflamation-
Hutchinson-Gilford progeria syndrome (HGPS)
is a form of childhood onset progeriawhere the child develops normally until 3-6 months and then rapidly age until death (mean age of death 13.5yo).
defect lamin gene
beri-beri
thiamine deficiancy
PKD
-Build up of 2,3 BPG causing release of oxygen/ messes up glycoytic pathway and HMP shunt wich means it cant take 3+hemglobin back to 2+=hymolitic anemia NO heinz bodies-people with PKD are resistant to malaria
cofactors of pdh
Tender -TPP Loving -Lipoic Acids Care -coenzyme A For- FADH-riboflavin Nancy-NADH Niacin
PFK 1 inhibitors and activators
-Actiovated by AMP inhibited by ATP/citrate
hexokinase
G6P inhibits allosterically
pyruvate kinsae inhibitor
ATP and acytly coa activators are amp and Fructose 1,6 bisphosphate
Galactosemia both causes
galactokinase deficiency=cataracts
Gal-1 P uridyle transferase= fucked cataracts and vomiting liver damage mental retard
fruktokinase deficiancy
benign
aldose B deficiancy
Heriditary fructose intolerance
liver damage kidney damage renal proximal tube damage KIDNEY damage
FAD deficiancy
causes swelling cracked lips
Niacin feciciency
causes pellegra
arsenite inhibits what?
lipoamide
Flouroacetate inhibits what
flouroacetate turns into flourocitrate and blocks aconitase
kartagener syndrome
Genetically inherited disease where dynein arms are missing or dysfunctional, thus rendering cilia/flagella useless. Affects systems that rely on ciliary transport.
Oligohydramnios =
too little amniotic fluid
Polyhydramnios =
excessive amniotic fluid
kartagner syndrome-(primary cylialry diconesia)
effects dynein arms of sperm infertility in men/cillia problem with airways
Surface Exoderm
Epidermis, hair, nails,
Subcutaneous (sweat and sebaceous) and lactiferous glands
Sensory epithelium of ear, nose, tongue, lens of eye, membranous labyrinth ear
Neuroectoderm
Neurulation; formation of neural tube (CNS)
Neural crest; PNS, retina
paraxial Mesoderm
Somites; bone (vert. column);
ribs; skeletal muscle; dermis;
tendons and ligaments; cartilage
Intermediate Mesoderm
Urinary and reproductive systems
Lateral Plate mesoderm
Connective tissues; muscle; body wall; some viscera
Endoderm
Lining of the GI tract
Inner epithelium of the respiratory tract, bladder, urethra
barbituates, retinone poison
inhibits e flow from com 1 to coQ (complex1)
Cyanide, azide and CO
binds fe3+ inhibiting com IV
Myxothiazol
inhibits electron transfer from UQH2 and Complex III.
Oligomycin (antibiotic) and N,N-dicyclohexylcarbodiimide (DCCD)
is a classical inhibitor of the FoF1-ATP synthase (FoF1), are ATP synthase inhibitors
I. Von Gierke
gene defect for enzyme G-6-Pase in liver not muscle -severe hypoglycemia -lactic acidosis due to lactic acid formation -hepatomegaly due to rise in G6P -G6P (glycogen) is osmotic retains water -hyperlipidemia is secondary -HSL-breaks TGs into 3FAs -accumulation of FAs
II pompe
cardiomegaly (enlarged heart),
death before age 2
DE:Lysomal Alpha 1 4 glucosidae
III CORI
Glycogen with short branches, α1,6
branches not cleaved off,
missing glycogen phosphorylase/glycogen
DE: debranching enzyme
IV Anderson
Linear glycogen: Liver failure causes
death, before age 2, immune system
attacks liver, needs liver transplant
DE: branching enzyme
V Mcardle
McArdle for muscle, muscle problem
glycogen in muscle only
nothing wrong with liver
NO muscle glycogen phophorylase
VI Herse
for hepatic, like type I, but milder
glycogen in liver only
nothing wrong with muscle
mild hypogly --- gluconeogenesis ok
DE: hepatic glycogen phosphorylaseMedium-chain acyl-CoA dehydrogenase deficiency (MCAD). MCAD
If β-oxidation does not work then no
Gluconeogenesis, results hypoglycemia and
the disease called Medium-chain acyl-CoA dehydrogenase deficiency (MCAD). MCAD
prevents the body from converting certain
fats to energy, particularly during fasting.
Sirenomelia
Inadequate mesoderm produciton incaudal portion of embryo results in meramid limb dies of improper kidney/GI formation
