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BIOL304 > Diseases > Flashcards

Diseases Flashcards

1
Q

Vitamin B1 deficiency

A

Overall: Issues with transketolase

Can cause issues in RBCs –> Get anemia + hemolytic disease in newborns

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2
Q

Glucose-6-Phosphate dehydrogenase deficiency

A

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

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3
Q

Hypervitomanosis

A

Increase in Vitamins

Example - Increase Vitamin D = Increase Calcium = Get problems in heart + Muscles

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4
Q

Van Gierke Disease

A

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

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5
Q

Pompei’s disease

A

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

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6
Q

MacArdles Disease

A

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

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7
Q

Fredirich’s Ataxia

A

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

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8
Q

Succinate Dehydrogenase Deficiency

A

Overall: Increase succinate – facilitates in formation of cancer

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9
Q

Emphysema

A

Overall: COPD – Bronchitis

Cause by: ROS

Note:
1. Can lead to small cell carcinoma –> die in 6 months

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10
Q

Duchene Muscular Dystrophy

A

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

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11
Q

LHON

A

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

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12
Q

Triosphosphate Isomerase Deficiency

A

Only Glycolytic enzyme deficiency that is lethal

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13
Q

Excess Frutose

A

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

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14
Q

Lactose Intolerance

A

“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

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15
Q

Succinly CoA deficincey

A

Overal: Deficincey in heme groups –> deficient hemoglobin + deficient RBCs –> Anemia

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16
Q

Group of enzymes that can lead to cancer

A

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

17
Q

Acytla CoA Acytel transferase

A

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

18
Q

Beri Beri

A

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

19
Q

Mercury + Arsenic

A

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

20
Q

Diabetic neuropathy

A

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
21
Q

Tuberculosis

A

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

22
Q

Bart Syndrome

A

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

23
Q

Classic Galactosemia

A

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

24
Q

Warburg Effect

A

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

25
Q

Triosphosphate isomerase deficincey

A

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

26
Q

Pyruvate carboxylase deficncey

A

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

27
Q

Hurler

A

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

28
Q

Adenocarcinoma

A

Cancer of glandular cells of epithelial origin

29
Q

Pyruvate dehydrogenase phosphatase deficiency

A

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

30
Q

Maple Syrup Disease

A

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

31
Q

Diabetes AA

A

Cysteine

32
Q

Thyroid problems AA

A

Tyrosine

33
Q

Parkinsons AA

A

Tyrosine

34
Q

Osteogensis imperfecta

A

Overall: Issue in collegen synthesis –> No glycine every 3 Amino Acids – have defects in collegen syntehsis

Blue scelera = found if have osteogensis imperfecta

BIOL304 (4 decks)

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