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foundations of medicine > FoM Diseases > Flashcards

FoM Diseases Flashcards

1
Q

Diabetic nephropathy

A
  • Accumulation of ECM
  • Thickened glomerular basement membrane (GBM)
  • Leading to restricted renal filtration and renal failure
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2
Q

Marfan syndrome

A
  • Mutation in the gene coding for fibrillin-1 (which is an important component of elastic fibers)
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3
Q

Parkinson’s disease

A

Neurodegenerative disease caused by the lack of clathrin coat in vesicles of synapses

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4
Q

Cystic fibrosis

A
  • Deletion mutation of phenylamine (508th position) of the CFTR protein
  • Leading to thickened mucous due to salt and water being unable to be transported out of the cells
  • Good environment for bacteria to grow => prone to bacterial infections
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5
Q

Robinow syndrome

A
  • Mutation of the ROR2 receptor

- Due to ER degradation

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6
Q

Familial hypercholesterolemia

A
  • Monogenic dominant trait
  • Mutation/defect in the LDLR
  • LDL unable to be taken up by cells => remains in the blood leading to high cholesterol levels in the blood
  • xanthomas (lesions of the skin containing cholesterol and fat): caused by macrophages taking up cholesterol, forming foam cells
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7
Q

Congenital muscular dystrophy

A
  • Absence of a2 chain in laminin 2

- Causes generalised weakness, hypotonia and deformities of the joints

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8
Q

Osteoarthritis

A

Excessive loss of ECM
=> loss of cushioning properties of the cartilage between the bones (that composes of aggrecan which help to resist compressive forces)

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9
Q

Liver Cirrhosis

Lung Fibrosis

A

Excessive production of fibrous connective tissue (Too much ECM - deposition of collagen and formation of scar tissue)

Normal healthy tissues replaced by scar tissues (stiff and fibrotic)

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10
Q

Beri Beri

A
  • Deficiency in Vitamin B1 (thiamine)
  • TPP is an important prosthetic group of pyruvate decarboxylase, involved in formation of acetyl-CoA from pyruvate.
  • Damage to peripheral nervous system, weakness in musculature and decreased cardiac output (problems with breaking down pyruvate)
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11
Q

Metabolic poison: Cyanide/azide

A

Metabolic poisons

- Bind to Fe3+ group in cytochrome oxidase complex, preventing the flow of electrons and production of ATP

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12
Q

Metabolic poison: Malonate

A

Metabolic poison

  • Competitive inhibitor of succinate for binding to succinate dehydrogenase
  • Blocks flow of electron of FADH to ubiquinone
  • Inhibits oxidation of succinate to fumerate
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13
Q

Metabolic poison: Oligomycin

A
  • Binds to stalk region of ATP synthase

- Blocks flow of protons through the enzyme

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14
Q

Metabolic poison: Dinitrophenol

A
  • Transports protons across the mitochondrial membrane (uncoupling of ATP synthesis with proton gradient - allows for another way in which protons can flow)
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15
Q

Steatorrhea

A
  • Fatty stool

- Lack of bile salts results in majority of fat passing through the intestines undigested and unabsorbed

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16
Q

Medication: Orlistat

A
  • inhibits gastric and pancreatic lipases

- reduces fat absorption

17
Q

Medium-chain Acyl-CoA dehydrogenase deficiency (MCADD)

A
  • Acyl-CoA dehydrogenase is involved in the first step (oxidation) of B-oxidation of fatty acids.
  • Deficiency of medium-chain enzyme
  • Patients should adhere to high carbohydrate diet. (cannot rely on fatty acid oxidation for metabolism)
18
Q

Primary Carnitine Deficiency

A
  • Mutations in the gene coding for carnitine transporter result in the reduced ability of cells to take up carnitine, which is needed to transport acyl-CoA into the mitochondrial matrix (where the enzymes for B-oxidation are located)
19
Q

Rickets

A

Vitamin D3 deficiency

  • Vitamin D3 is synthesised from cholesterol (UV light as initiator)
  • Calcitrol is a key component in calcium metabolism.
20
Q

5 classes of familial hypercholesterolaemia

A

Class I:
Mutation in LDLR promotor/frameshift/deletion - LDLR not synthesised.

Class II:
Mutation in coding region - LDLR not properly transported from the ER to the Golgi leading to low surface expression.

Class III:
Mutation in region encoding N-terminus - LDLR does not bind LDL efficiently.

Class IV:
Mutation in cytoplasmic domain - LDLR-LDL complex does not cluster in clathrin-coated pits for receptor-mediated endocytosis.

Class V:
Mutation in EGFP domain - LDL is not released from receptor and LDLR not recycled back to the cell surface.

21
Q

Medication: Aspirin

A
  • Anti-inflammatory drug
  • Acts by inhibiting the breakdown of IKB, which is an inhibitor of NFKB
    => NFKB (transcription factor of cytokine genes) is unable to initiate cytokine production in the cell, thereby reducing inflammation
22
Q

Breast Cancer

A
  • Oestrogen receptor (transcription factor) regulates oestrogen-regulated genes
    => over 70% of breast cancers over-express the oestrogen receptor
23
Q

Polio virus

A
  • invades the nervous system and cause poliomyelitis (paralysis)
  • transmitted via the faeco-oral route
  • interferes with recognition of the 5’ guanine cap during translation of DNA
24
Q

Beta-Thalassaemia

A
  • inherited disorder where there is an imbalance in the relative amount of globin chains (relative deficiency of B chains) making up Hb
  • several types of B-thalaessaemia feature splice site mutations in the B-globin gene
  • can cause hepatosplenomegaly, iron overload, severe anemia, endocrinopathies (DM, etc.)
  • very common in China, The Mediterranean and SE Asia
25
Q

Respiratory Distress Syndrome (RDS)

A
  • Common in neonates
  • Born before they are able to produce sufficient surfactant for alveoli to reduce surface tension and prevent collapse of alveoli
  • Can use glucocorticoids to stimulate type II pneumocytes to produce more surfactant
26
Q

Acute Respiratory Distress Syndrome (ARDS)

A
  • inflammation of the airways
27
Q

Polycythaemia

A

Increased levels of circulating red blood cells in the bloodstream
- causing increased haematocrit (ratio of RBC volume to total cell volume), Hb and RBC counts

Primary polycythaemia results from inherent problems in the process of RBC production. Secondary polycythaemia results from response to other factors.

28
Q

Anaemia

A

Decreased levels of circulating RBC in the bloodstream

29
Q

IPEX

A
  • mutation in FOP3 gene => no Treg cells

- autoimmunity (due to extensive immune response without regulation from Treg cells)

30
Q

APECED

A
  • failure of central tolerance
  • caused by a mutation in the AIRE transcription factor important for the expression of tissue-specific genes in the thymus and thus negative selection of self-reactive T cells
  • autoimmune
31
Q

Multiple Sclerosis

A
  • Autoimmune disease (type IV hypersensitivity) where the Schwann cells or oligodendrocytes are attacked
  • Loss of myelination leading to compromise in action potential conduction

foundations of medicine (21 decks)

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