Diseases

Question 1

Describe Xeroderma Pigmentosum

Answer 1

Mutation leads to lack of nucleotide excision repair (NER) leading to photosensitivity as thymine dimers form. This leads to cancer/death at a young age even w/ every effort to avoid the sun.

This same mechanism is seen w/ Cockayne’s Syndrome and PIBIDS Syndrome

Question 2

Describe Lynch syndrome

Answer 2

Associated with colon cancer due to a mutation in mismatch repair. This increases the change of microsatellite instability leading a hypermutable repeat region.

Question 3

Describe Leukocyte adhesion deficiency

Answer 3

Lack of the beta-2 integrin prevents the body from arresting leukocytes and sending their message into the cell/promotion neutrophils to the are. This person will have frequent infections.

Question 4

Describe osteogenesis imperfecta

Answer 4

A mutation in collagen 1 leads to brittle bones, frequent fractures, scoliosis, BLUE sclera, and skeletal deformities. Also see a triangular face, hearing loss in 20s/30s, and hypotonia.

Type 1:mild, decreased amount of collagen
Type 2: improperly formed collagen=very severe, respiratory failure usually occurs young due to underdeveloped lungs

Question 5

Describes Elhers-Danlos syndrome

Answer 5

Mutation in collagen leads to hyper mobile joints, fragile skin, and arterial/intestinal ruptures. Many types and varying severity depending on which collagen fiber is affected.

Question 6

Menkes Disease

Answer 6

Mutation in copper transporter gene bc of deficient cross linking of collagen due to copper deficiency
See depigment, fragile/kinked hair, pectus excavation, anemia ect.

Question 7

Describe Scurvy

Answer 7

Due to deficiency in vitamin C, hydroxylation of lysine and proline can’t occur leading to weak collagen. Resulting in blessing gums, weak skin, perifollicular hemorrhages (bloody red bumps on leg follicles)

Question 8

Describe Allport Syndrome

Answer 8

Inherited mutation in type 4 collagen leads to break down of basal lamina resulting in blood/protein in urine as well as potential end stage renal failure (ENRF)/kidney disease plus eye/hearing loss

Question 9

Describe Goodpasture Syndrome

Answer 9

Autoimmune disease with affecting collagen type 4 leading to the body attacking the kidney/lungs resulting in glomerulonephritis, pulmonary alveolar hemorrhage and nose bleeds

Question 10

Describe Marfan’s Syndrome

Answer 10

Mutation in fibrillin-1 leading weak elastic fibers. Results in
S: skeletal issues- very tall, and long fingers/hypermobile bc TGF-beta isn’t turned off
H: heart issues/risk for aneurysms due to weak arteries
E: eyes- detachment of cornea/lens + myopia