Diseases

Question 1

I-Cell Disease

Answer 1

Offender: Golgi
Details: lysosomal enzymes are secreted from cell, waste accumulates
Results in: cloudy cornea, liver/spleen enlargement, hernia

Question 2

Tay-Sachs Disease

Answer 2

Offender: Lysosomes
Details: deficiency of lysosomal enzyme hexoseaminidase A, accumulation of glycolipids
Results in: death

Question 3

Zellweger Syndrome

Answer 3

Offender: Peroxisomes
Details: no new peroxisomes made, fatty acids accumulate
Results in: organ failure and death by age 1

Question 4

Wiskott-Aldrich Syndrome

Answer 4

Offender: Actin
Details: actin does not form
Results in: thrombocytopenic purpura, infections, and eczema

Question 5

Kartagener’s Syndrome

Answer 5

Offender: Microtubules
Details: dynein defect
Results in: immotile sperm, male/female infertility, bronchiectasis, recurrent sinusitis, situs inversus

Question 6

Epidermolysis Bullosa

Answer 6

Offender: Intermediate filaments
Details: keratin mutation that causes epidermis to easily dislodge from dermis
Results in: frequent abrasions, infection

Question 7

Alzheimer’s Disease

Answer 7

Offenders: Microtubules & intermediate filaments
Details: Tau blocks transport on microtubules; Hyperphosphorylated neurofilaments

Question 8

Emery-Dreifuss Muscular Dystrophy & Hutchinson-Gilford Progeria Syndrome

Answer 8

Offender: Lamin network
Details: mutations in type A lamin genes, disrupts nuclear membrane

Question 9

Osteogenesis Imperfecta

Answer 9

Offender: Collagen I
Details: defective collagen
Results in: brittle bones, bone deformities, multiple spontaneous fractures

Question 10

Ehlers-Danlos Syndrome

Answer 10

Offender: Collagen III
Details: no covalent cross-linking of collagen
Results in: aortic rupture, thick skin, joint dislocation, and hyperextensible skin and joints

Question 11

Scleroderma

Answer 11

Offender: Collagen
Details: over-production of collagen
Results in: “Stone skin disease”