Diseases Flashcards
Vitamin B1 deficiency
Overall: Issues with transketolase
Can cause issues in RBCs –> Get anemia + hemolytic disease in newborns
Glucose-6-Phosphate dehydrogenase deficiency
Overall: Decrease in NADPH in RBCs –> lead to hemolytic anemia
Notes:
1. Most common enzyme deficiency
2. More common in African Americans
3. Increases Malaria resistance
4. Inhibits the oxidative path = no Non-oxidative path
5. X- Linked recessive
Hypervitomanosis
Increase in Vitamins
Example - Increase Vitamin D = Increase Calcium = Get problems in heart + Muscles
Van Gierke Disease
Overall: Deficiency in Glucose-6-Phosphatase
Notes:
1. Increase in Uric Acid –> Leads to gout
2. Serial Hyperglycemia –> Can’t control blood glucose levels
3. Enlarged Liver + Enlarged Kidney
Pompei’s disease
Overall: Deficiency in Alpha 1,4 and alpha 1,6 Glucosiase
Notes:
1. Lysosomal Storage disorder
2. Hypotrophic cardiomyopathy –> Heart mudcle is bigger = pump less blood
3. Exercise intolerance
4. Death by 2/3
MacArdles Disease
Overall: Deficiency in Skeletal muscle glycogen Phosphatase
Notes:
1. Increase glycogen in muscle but can’t break it down –> get painful muscle cramps
2. Myoglema – no strenuous excise
3. Electrolyte abnormalities
Fredirich’s Ataxia
Overall: Frataxin Deficiency
Effects:
Nervous system + Skeletal system + Heart
NOTE: Frataxin small mitocondrial protein that synthesizes Fe-S Clusters
Notes:
1. Autosmal
2. Hypotrophic cardiomyopathy
3. Bottom of feat are hard = feet roll
4. Antiseptic Disorder – next generation gets it young
5. Caused by GAA repeats in teh Frataxin Gene
Succinate Dehydrogenase Deficiency
Overall: Increase succinate – facilitates in formation of cancer
Emphysema
Overall: COPD – Bronchitis
Cause by: ROS
Note:
1. Can lead to small cell carcinoma –> die in 6 months
Duchene Muscular Dystrophy
Overall: Caused by ROS –> Have skeletal muscle turns to fat
Notes:
1. Symptom is cow maneuver to get up – poor muscle tone
2. Kids die young
3. X-links recessive
4. Lysosomal Storage Disorder
LHON
Lern Haber Optic nueropothy – Type of blindness due to death in optic nueron
OverallL Type of blindness due to mutation in complex I (IN ETC)
Note:
1. Effects Nerve 2 (Optic nerve)
2. Impairs NADH Utilization + Blocks transfer to Q
3. In mice model – Decreases ATP and Increases ROS
Triosphosphate Isomerase Deficiency
Only Glycolytic enzyme deficiency that is lethal
Excess Frutose
Leads to:
1. Fatty Liver
2. Type 2 Diabetes
3. Obesity
4. Insulin insensitivity
Liver Fructose Metabolism bypasses PFK1 (main regulation site)
Excess Pyruvate –> AcoA –> Fatty Acids
Lactose Intolerance
“Hypolactasia”
Cause by: Lactase deficiency – adults lack enzyme that degrade lactose
Notes:
1. Northern Europeans have mutation that stops decrease in Lactase after weaning
2. In lactose intolerant –> gut bacteria ferment lactose to lactic acid –> get methane + H2 – get gas + disrupt osmotic balance in intestine
Succinly CoA deficincey
Overal: Deficincey in heme groups –> deficient hemoglobin + deficient RBCs –> Anemia
Group of enzymes that can lead to cancer
Defects in Succinate Dehydirgenase + Fumarase + Pyruvate dehydrogenase kindase + Isocitrate dehydrogenase contribute to cancer griwth
Succinate dehydrigenase + Fumarase + Pyruvate dehydrigenase kinase mutations = activates HIF-1 –> enhanced aerobic glycolysis
Muttaion in isocitrate dehydrigenase –> synthesis of 2-hydroxyglutarate – modifies DNA methylation patters that alter gene expression and promote rapid growth
Acytla CoA Acytel transferase
Synthesizes ketone bodies to serve as fules for tissues – in some cancers the enzyme is phosphorylated – changes activity to be protein acytly trasnferase THEN it can acytelyae Pyruvate dehydrigenase and pyruvate dehydrigenase phosphatase – inhibits enzymes which facilitates switch to aerobic glycolysis
Beri Beri
Overall: Due to Thiamine deficiencey
Thiamine deficiencey = leads to decrease in PDC + A-KG dehydrogenase + Transketolase activity
***Thiamine = processor of TPP – enzymes need TPP to function
Sympotoms: Nuerologic + cardiovascular probelms
***Thiamine = found in brown rice not white rice
Dry beri beri – lose skelatoal muscles
Wet Beri Beri – dialated cardiomyopothy – less blood circulation due to bigger heart chambers
Mercury + Arsenic
Overall: Inhibit Pyruvate dehydrogenase complex – binds to two sulfars in dihydrolipoamide
2,3 Dimercamptoproanol = counter effects of arsenite poinsoning by making comlex that can be extreted
***early hatters = used mercyry = inhibited PDC by binding to lipoamide arm = led to stange behavior
Diabetic neuropathy
Overall: Numbness or tingling or pain in limbs and digits common in type 1 and type 2 diabetes
Sympotoms = Caused by overproduction of lactic acid in the dorsal root ganglion (part of nervous system repsonsible for pain)
- Increase in lactic acid may be due to hyperglycermia (high glucose) - have increased pryuvate dehydrogenase kinase activity in cells in dorsal root ganglion = inhibits PDC -- pyruvate then goes to lactate = increase lactate = acid
Tuberculosis
Overall: Bacteria that is trasmitted to people by coughing or sneezing
Rifamipicin = common treament –> inhibitors tranlation BUT new strains = need new tratemnts
Bacteria= use glyoxylate cycle (especially in latent state in lungs)
NEW DRUG – suicude inhibitor for layase has been synthesized – when inhibitor reacts with lyase suciante is release but the cystein lyase remians modified
***cysteine = conserved = bacteria should not be able to develope resistence
Bart Syndrome
Overall: reduced taffafzin
Note: Taffafzin is responsible for cardiolinpidin synthesis (cardiolipidin = found in mitocdinrial memebrane and is important for the structure of the respirasome which is used in ATP synthesis)
Sympotoms: Dialated heart chambers + excersize intolerance + impaired growth
Individuals = have malformed mitocondria with distorited inner membranes and poorley functioning respirasomes
Classic Galactosemia
Overall: Galactose-1-P Uridly trasnferase activity is deficient
Symtoms:
1. Failure to Thrive
2. Jaundice + Liver englargment
3. Cirrous
4. Cateract formation
***Treatment = to remove galactose and lactose from diet
Warburg Effect
Overall: Cancer cells use aerobic glycolysis for ATP generation (make Lactate even in the presence of oxygen)
Why:
1. Acidic envirment = facilitates in tumor invasion
2. Glu-6-P gives substate for PPP to make NADPh which is needed by rapidly dividing cells
3. Tumors tend to have little blood vessels = little oxygen supply = aerobic makes them less reliant on O2
***HIF-1 (hypoxia induced trasncription factor) - faciliatets in aerobic glycolysis –> allows the tumor to survive until blood vessels can grow
Triosphosphate isomerase deficincey
Overall: Multisystem disoder that presents in early childhood
Symptoms:
1. Congetical RBCS defects
2. Nuerological defcets
3. Death in early childhood
**Accumilation of DHAP (esocially in RBCs)
**CNS + RBCs = affected because they rely on glucose for energy
***Can also get mythl glyoxylate –> can glycosylate oroteins and for AGEP – inhibits protein function
Pyruvate carboxylase deficncey
Symptoms:
1. Hypoglycermia – because can’t make glucose
2. Lactic Acidosis – because normally liver takes lactic acid for gluconogenisis but it can’t = LA builds up in blood
Hurler
aka “mucopolysacaridoses”
Overall: Results from inhibition to degrade proteoglycans – protoglycans = not degraded = accumalte in the blood
Symtoms:
1. Skelatal defromations
2. Reduced life expectancy
***Have thick ear lobe + thick skin + irregular teeth
Adenocarcinoma
Cancer of glandular cells of epithelial origin
Pyruvate dehydrogenase phosphatase deficiency
Prydavte dehydrogenase will always be phosphorylated = will also be inactivated
AcoA –> lactate = increase lactate in blood (get lactic acidosis)
Affects CNS – many systems malfunctions because of the acidic envirnment
Maple Syrup Disease
Overall: Defect in branch chain AA A-KA dehydrogenase
Issue in Val + Leu + Ile
***Diaper = smells like brunt surgar
Symptons:
1. Frequent metabolic issue
2. Affect CNS
3. Pateint dies
Give AA to help
Autosomal Recessive
Diabetes AA
Cysteine
Thyroid problems AA
Tyrosine
Parkinsons AA
Tyrosine
Osteogensis imperfecta
Overall: Issue in collegen synthesis –> No glycine every 3 Amino Acids – have defects in collegen syntehsis
Blue scelera = found if have osteogensis imperfecta
