Week 2- Disease Flashcards
(23 cards)
What is lupus?
Autoimmune disorder where body makes antibodies against own tissue and organs
What causes lupus?
SnRNPs are destroyed and introns are not removed
What is OPMD?
Occulopharyngeal muscular dystrophy. It is a slow progressive muscle disease that affects upper eyelids and throat
What causes OPMD? How is OPMD inherited?
Additional alanines in animo terminal of poly A binding protein.
It is autosomal dominant and 100% penetrant
What is PKU?
It is a disease where there is amino acid build up since the body is unable to process phenylalanine (PHE) into tyrosine.
How is PKU inherited?
Autosomal recessive
What is CF?
Disease that causes lung infection and limits ability to breathe.
How is CF inherited?
Autosomal recessive
What is achondroplasia?
Short limb dwarfism.
How is achondroplasia inherited?
Autosomal dominant
What causes PKU?
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
What causes CF?
Mutation in CFTR gene (chloride channel). There layer of airway surface fluid is depleted.
What causes achondroplasia?
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)
What is retinoblastoma?
Cancer in immature cells of retina
How is retinoblastoma inherited?
Autosomal dominant but has many underlying issues as people study it more
Why does retinoblastoma occur?
Mutation in gene 13
What is neurofibromatosis type 1?
Condition where color of skin changes and there is growth of tumor along nerves
How is NF1 inherited?
Autosomal dominant
50% due to new mutations
What is marfan syndrome?
Genetic disorder that affects body’s connective tissue
Why does Marfan syndrome occur?
Have a mutation in FBN1 gene
What are some symptoms of Marfan syndrome?
have dilation of aorta; ectopia
lentis (lens dislocation); skeletal changes; dural ectasia (widening or dural sac
surrounding spinal cord)
How is Mardan syndrome inherited?
Autosomal dominant
How do you diagnose a patient with Marfan syndrome?
- Aortic dilation and ectopia lentis
- Aortic dilation and FBN1 pathogenic variant
- Aortic dilation and system score >7
- Ectopia lentis and FBN1
