Student seminar 9/9- DS

Question 1

Down Syndrome Def

Answer 1

a genetic disorder caused by abnormal cellular division

Question 2

Down Syndrome Characteristics

Answer 2

cognitive disabilities, metabolic disorders, increased risk cancer

Question 3

Down Syndrome Types

Answer 3

Trisomy 21, Translocation DS, Mosaic DS

Question 4

Nondisjunction

Answer 4

abnormal
separation of homologous
chromosomes or sister
chromatids

Question 5

Trisomy 21

Answer 5

three copies of chromosome 21 causes a disturbance in gene dosage

Question 6

amyloid-beta-peptide

Answer 6

(formed from APP)
deposits plaques in the brain

Question 7

APP

Answer 7

Amyloid protein precursor

Question 8

APP function

Answer 8

precursor to peptides that build up and cause poor cell- to- cell synapses in brain

Question 9

Direct RUNX1 impact

Answer 9

Down Syndrome and Hematopoietic
Disorders

Question 10

RUNX1

Answer 10

Transcription factor: controls the activity of target
genes

Question 11

MYC

Answer 11

oncogene that contributes to the
genesis of many human cancers (regulates
cell function and growth)

Question 12

RUNX1 affected areas

Answer 12

Development and homeostasis of neural tissue,
heart, muscle, bone, and blood cells

Question 13

Normal fetal hematopoiesis

Answer 13

High RUNX1 B/C levels

Question 14

Trisomy 21 + GATA1s mutation

Answer 14

High RUNX1 A levels
—> MYC:MAX—> MYC

Question 15

Reduced electron flux through
complexes; Results in oxidative stress

Answer 15

too many unstable free radicals and
not enough antioxidants to get rid of
them

Question 16

Oxidative phosphorylation

Answer 16

– downregulated  negatively affected mitochondrial function leads to metabolic issues

Question 17

Glycolysis (upregulated PFKL gene) & Citric Acid Cycle (upregulated ACLY and OGDH genes)

Answer 17

increased glucose

Question 18

PFKL

Answer 18

encodes phosphofructokinase

Question 19

PFK importance to glycolysis

Answer 19

rate-limiting step

Question 20

Faster glucose metabolism in the brain results in

Answer 20

cognitive disabilities and metabolic disorders (obesity, T2D)

Question 21

DNA damage from oxidative stress

Answer 21

free radicals can add double bonds and remove an H-atom from the methyl group of thymine

Question 22

ACLY

Answer 22

encodes for citrate synthase

Question 23

OGDH

Answer 23

encodes a critical subunit of alpha-ketoglutarate dehydrogenase

Question 24

Increased production of NADH to carry e- to the electron transport chain (Citric Acid Cycle)

Answer 24

weakened mitochondrial content results in e- escaping across the membrane

Question 25

Electrons are captured by O2 creating free radicals (citric acid cycle)

Answer 25

cause protein and DNA damage = morphological abnormalities, immune disorders, premature aging

Question 26

DS mRNA and protein levels(figure)

Answer 26

mRNA levels were found to be upregulated protein levels were downregulated post translation things going on after the mRNA is made into protein (high mRNA low protein

Question 27

NADH FADH2 roles in mitochondria

Answer 27

formed in glycolysis, fatty acid oxidation, and the citric acid cycle are used to reduce oxygen to water by a series of electron carriers located in the inner mitochondrial membrane. When the inner membrane becomes weaker and less stable due to the affected mitocondria