Week 2- Disease

Question 1

What is lupus?

Answer 1

Autoimmune disorder where body makes antibodies against own tissue and organs

Question 2

What causes lupus?

Answer 2

SnRNPs are destroyed and introns are not removed

Question 3

What is OPMD?

Answer 3

Occulopharyngeal muscular dystrophy. It is a slow progressive muscle disease that affects upper eyelids and throat

Question 4

What causes OPMD? How is OPMD inherited?

Answer 4

Additional alanines in animo terminal of poly A binding protein.

It is autosomal dominant and 100% penetrant

Question 5

What is PKU?

Answer 5

It is a disease where there is amino acid build up since the body is unable to process phenylalanine (PHE) into tyrosine.

Question 6

How is PKU inherited?

Answer 6

Autosomal recessive

Question 7

What is CF?

Answer 7

Disease that causes lung infection and limits ability to breathe.

Question 8

How is CF inherited?

Answer 8

Autosomal recessive

Question 9

What is achondroplasia?

Answer 9

Short limb dwarfism.

Question 10

How is achondroplasia inherited?

Answer 10

Autosomal dominant

Question 11

What causes PKU?

Answer 11

Phenylalanine
hydroxylase deficiency-> body can not process PHE to tyrosine.

PHE then collects and causes brain damage,
microcephaly, epilepsy. Patients need to limit foods that are high in protein

Question 12

What causes CF?

Answer 12

Mutation in CFTR gene (chloride channel). There layer of airway surface fluid is depleted.

Question 13

What causes achondroplasia?

Answer 13

Mutation in fibroblast growth factor (FGFR3) which is a negative regulator of bone growth. Since gene is active, it inhibits bone growth (gain of function)

Question 14

What is retinoblastoma?

Answer 14

Cancer in immature cells of retina

Question 15

How is retinoblastoma inherited?

Answer 15

Autosomal dominant but has many underlying issues as people study it more

Question 16

Why does retinoblastoma occur?

Answer 16

Mutation in gene 13

Question 17

What is neurofibromatosis type 1?

Answer 17

Condition where color of skin changes and there is growth of tumor along nerves

Question 18

How is NF1 inherited?

Answer 18

Autosomal dominant

50% due to new mutations

Question 19

What is marfan syndrome?

Answer 19

Genetic disorder that affects body’s connective tissue

Question 20

Why does Marfan syndrome occur?

Answer 20

Have a mutation in FBN1 gene

Question 21

What are some symptoms of Marfan syndrome?

Answer 21

have dilation of aorta; ectopia
lentis (lens dislocation); skeletal changes; dural ectasia (widening or dural sac
surrounding spinal cord)

Question 22

How is Mardan syndrome inherited?

Answer 22

Autosomal dominant

Question 23

How do you diagnose a patient with Marfan syndrome?

Answer 23

1. Aortic dilation and ectopia lentis
2. Aortic dilation and FBN1 pathogenic variant
3. Aortic dilation and system score >7
4. Ectopia lentis and FBN1