Diseases

Question 1

Alzheimer’s Disease

Answer 1

Amyloid precursor protein breaks down into amyloid beta peptide (Ab)

Ab forms plaques in brain extracellularly

Hyperphosphorylation of Tau (neurofibulalry triangles) inctracellularly

mutations in APP and Tau form familial forms, aging causes sporadic (more common)

Question 2

Parkinson’s Disease

Answer 2

aggregation of a-synuclein (AS) proteins form Lewy bodies in dopaminergic neurons in the substantia nigra

reduced dopamine available

mutations in AS causes familial forms, brain aging causes sporadic form

Question 3

Huntington’s Disease

Answer 3

mutating in huntington gene, expansion of CAG triplet repeats

causes polyglutamin repeats and H bonds causing misfolding and aggregation

cell death in basal ganglia causes sx

Question 4

Crutzfeldt-Jakob Diseases

Answer 4

misfolding of prion proteins

transmissibale as infection converts normal proteins into misfolded form

TSE-holey brain

Question 5

Turner Syndrome

Answer 5

Karyotype 45, XO (Know what it looks like)

monosomy x, no Y, female

short, fertility/puberty issues

CV defects, no issues with congnition

Question 6

Prader-Willi and Angelman Syndromes

Answer 6

Deletion in region of Chromosome 15

phenotype based on if deletion is on patenral or maternal chromsomes

paternal-prader willi with short stature, obesity, uncontrolled eating

maternal-angelman syndrome: severe IQ issues, seizures

Question 7

Klinefelter Syndrome

Answer 7

Karyotype 47, XXY (know how it looks)

varying presentation, social/cognitive, IQ issues

hypogonadisim, gynecomastia, infertiltiy, tall

variability in number of X’s

Question 8

Trisomy 21

Answer 8

Karyotype 47

most common, often from maternal nondisjunction, unbalanced

cognitiive, caridac defects, duodenal atresia

Question 9

trisomy 18

Answer 9

Edwards 47

less common, often IUGR, die in utero mostly

microcephaly, low set ears, rocker bottom feet

Question 10

trisomy 13

Answer 10

Patau syndrome 47

severe, least common

die before birth mostly, heart, kindey and CNS dysfunction, microcephaly

Question 11

Retinoblastoma

Answer 11

autosomal dominant

phenotype in 90% of people (penetrance)

Question 12

Neurofibromatosis

Answer 12

tumor like growths, some have cafe au lait (variable expressivity)

Question 13

Marfan Syndrome

Answer 13

affects CT, affects several different functions (variable expressivity)

Question 14

Osteogenesis Imperfecta

Answer 14

brittle bone dsiease can be caused by mutations on one of two different genes (locus heterogeneity)

Question 15

LHON

Answer 15

Lebers hereditary neurpathy

degeneration of retinal ganglion cells

one of three pahtogenic mtDNA point mutations affecting NADH dehydrogenase which starges RBCs of energy

vision loss in early teens or 20s

Question 16

MERF

Answer 16

Myoclonic epilepsy and ragged red fibers

caused by mutaiton in gene encoding for tRNa for lysine which disrupts the syntehsis of c-c-oxidsase

myoclonus ataxia and seizures

hertoplasmy-large variation in sx

Question 17

MELAS

Answer 17

mitochondrial encephalomyopathy lactic acidosis and stroke like episodes

maternally inherited disease

affects many body systems (CNS, muscles)