Ge Clst 72B Lecture 15

Front 1

male or female bias: multiple sclerosis

Back 1

female

Front 2

male or female bias: depression

Back 2

female

Front 3

male or female bias: tourette's

Back 3

male

Front 4

male or female bias: neural tube defects

Back 4

female

Front 5

male or female bias: ADHD

Back 5

male

Front 6

male or female bias: Parkinson's

Back 6

male

Front 7

male or female bias: autoimmune diseases

Back 7

female

Front 8

male or female bias: diabetes

Back 8

female

Front 9

male or female bias: mental retardation

Back 9

male

Front 10

male or female bias: fragile X syndrome

Back 10

male

Front 11

male or female bias: lupus

Back 11

female

Front 12

male or female bias: osteoporosis

Back 12

female

Front 13

male or female bias: STDs

Back 13

female

Front 14

male or female bias: autism

Back 14

male

Front 15

male or female bias: duchenne muscular dystrophy

Back 15

male

Front 16

mutation of x gene

Back 16

the protein encoded by the gene is absent or functions improperly (LOSS of function or GAIN of abnormal protein)

Front 17

wy are males at a disadvantage with x-linked mutations?

Back 17

males lose the only X gene they have at that locus

females with mutations have another x allele that functions normally

Front 18

Rett syndrom is an X-linked disease, but only found in females. how?

Back 18

Rett syndrome is lethal in males

Front 19

duchenne muscular dystrophy

muscles start strong and get weaker with age
males only, female carriers some symptoms
debilitating and eventually death age ______
diagnosis age ____
loss of strenth, loss of ability to walk age _____
failure of ________, inability to breathe in and out
mutation of ________ gene

Back 19

muscles start strong and get weaker with age
males only, female carriers some symptoms
debilitating and eventually death age 15-20
diagnosis age 4-8
loss of strenth, loss of ability to walk age 9-14
failure of DIAPHRAGM, inability to breathe in and out
mutation of X-LINKED gene

Front 20

hemophilia

as many as ___ different proteins contribute to clotting

immediately after ___________ ruptures, platelets (blood proteins) react and form a clot

one of the clotting factors is ___________

Back 20

hemophilia

as many as 20 different proteins contribute to clotting

immediately after BLOOD VESSEL ruptures, platelets (blood proteins) react and form a clot

one of the clotting factors is X-LINKED

Front 21

blood clotting disorders symptoms

Back 21

excessive bleeding, excessive bruising, easy bleeding, nose bleeds, abnormal menstrual bleeding

Front 22

bleeding disorder risks

Back 22

scarring of joints or joint disease
vision loss from bleeding into the eye
chronic anemia from blood loss
neurologic or psychiatric problems
DEATH

Front 23

x-linked diseases with female bias example

Back 23

neural tube closure defects

embryonic failure of the developing nervous system to close into a tube

is lethal or causes malformation of the brain

Front 24

autoimmune diseases

Back 24

immune system attacks "self" proteins

Front 25

4 characteristics of specific immune response

Back 25

1. specific to antigens
2. enormous scope of diversity
3. ability to distinguish self from non-self
4. immunological memory

Front 26

antigens

Back 26

cells, viruses, proteins, other foreign molecules

Front 27

antigenic determinants

Back 27

parts of the antigen, specific parts of molecules that comprise the antigen

Front 28

antibodies

Back 28

molecules that recognize and bind to antigen and remove it

Front 29

diversity

Back 29

immune system can respond specifically to 10 million different antigenic determinants

Front 30

distinguishing self from non-self

Back 30

immune system does not generally attack body's own antigens

exceptions: autoimmune diseases such as diabetes, MS...

Front 31

biological basis of vaccination

Back 31

immunological memory: immune system remembers previously recognized antigens

Front 32

multiple sclerosis

Back 32

autoimmune disease that affects the CNS. immune system T cells enter brain and attack myelin proteins
myelin is lost in MS, leaving scars (sclerosis) or plaques or lesions

Front 33

myelin

Back 33

fatty tissue protecting nerve fibers, helps nerve fibers conduct elecrtical impulses

rich in protein (myelin basic protein MBP and proteolipid protein PLP) and lipids

Front 34

symptoms of MS

Back 34

difficulty walking
bladder or bowel dysfunction
dizziness and vertigo
depression or emotional changes
fatigue/numbness/pain/sexual dysfunction/spasticity/vision problems

Front 35

type of MS: relapse-remitting

Back 35

85% of cases
flare-ups, exacerbations, intermittent recovery

Front 36

type of MS: primary-progressive

Back 36

10%
slow, progressive continuous worsening

Front 37

type of MS: secondary-progressive

Back 37

50% of relapse-remitting
R-R then slow pregrossive worsening

Front 38

type of MS: preogressive-relapsing

Back 38

5%
slow progression with acute bad attacks

Front 39

females are _____ times more likely to get MS

Back 39

2-3

Front 40

onset in females is _____ (earlier/later)than in males

Back 40

earlier, female onset is typically after puberty

male onset typically in 30s-40s

Front 41

most common in people with ____________ ancestry

Back 41

European,

but people with Asian and African ancestry also get MS

400,000 Americans have MS

Front 42

Average risk ____
risk if parent has MS ___
risk if identical twin has MS ____

Back 42

Average risk 1/750
risk if parent has MS 1/40
risk if identical twin has MS 1/4

Front 43

evidence for enviornmental factors: MS

Back 43

prevalence equatorial areas< S. US & S. Europe < N.US & N. Europe & Canada

Front 44

migration studies suggest

Back 44

that childhood exposure to an environmental factor increases susceptibility to MS

Front 45

hormonal observations of MS

Back 45

female onset after puberty
MS symptoms reduced during pregnancy
MS may get worse after menopause
oral contraceptives may improve MS symptoms
pregnancy or contraceptives do not prevent MS
24% of male MS patients have lower testosterone levels than normal

Front 46

EAE: experimental autoimmune encephalomyelitis

Back 46

inject mouse with myelin related protein and induce an immune reaction to the protein (with an adjuvant [i guess that's a word])
mouse makes antibodies to the protein
mouse begins to show signs of weakness, inability to move, similar to MS
females show progression of symptoms faster than males

Front 47

adoptive EAE

Back 47

transfer lymph node cells from immunized mouse to recipient; clinical score after transfer of female cells is worse than after transfer of male cells

Front 48

test for activational effects

Back 48

remove gonads to determine if gonadal secretions (activational effects) contribute to the sex difference
if gonadectomy abolishes sex difference, then treat males and females with identical levels of E,T, or P to see whcih hormone influences the trait

Front 49

EAE castrated males vs. normal males

Back 49

clinical score was worse in castrated male

conclusion: testes protect from EAE

Front 50

Adoptive EAE: placebo-treated female and DHT-treated female

Back 50

clinical score worse for placebo treated female

conclusion: androgen protects from EAE in females

Front 51

Adoptive EAE: placebo-treated male and testosterone treated male

Back 51

clinical score worse in placebo treated male

conclusion: testosterone protects from EAE in males

Front 52

Adoptive EAE: hormones of pregnancy

placebo-treated female, estrio-treated female, progesterone treated female

Back 52

clinical score best in estriol treated female

conclusion: estriol protects from EAE in females

Front 53

estriol

Back 53

weak estrogen secreted in the last part of pregnancy

good candidate for drug to treat women with MS

now in clinical trials

Front 54

animal research

Back 54

identifies candidate drugs then tested humans to alleviate disease

Front 55

testing for organizational effects

Back 55

treat females with T at birth, or remove T from males at birth
test whether these treatments cause masculinzation or demasculinization

Front 56

testing for sex chromosome effects

Back 56

compare mice with different sex chromosomes which are hormonally equivalent, if possible

compare xx vs. xy females under identical hormonal conditions

Front 57

____________ is immunosuppressive

Back 57

testosterone

Front 58

prevalence and impact of migraine

Back 58

18-25% of women; 6-10% men
WHO- 12th highest cause of disability among women, 19th highest overall
no difference in prepubertal children
migraine begins at onset of menstruation in 1/6 of female patients

Front 59

____% of female migraineurs report association between migraine and onset of menses

Back 59

50

Front 60

how are migraines different around menstruation

Back 60

more sever, more likely to be associated with nausea/vomiting

migraine less frequent in luteal stage

Front 61

how does pregnancy affect migraines?

Back 61

most women improve during pregnancy. by 3rd trimester 87% improvement

rebound after birth, weaning

Front 62

how does menopause affect migraine?

Back 62

migraine may worsen before start of menopause

migraine generally improves after menopause

Front 63

estrogen withdrawal hypothesis

Back 63

progesterone treatment delays menstrual bleeding, not headache

estradiol treatment delays headache, not bleeding

progesterone thought not to be involved

E2 gel, conjugated estrogens reduce incidence of menstrually associated migraine

Front 64

estrogen containing contraceptives

Back 64

increase incidence and severity of headache

Front 65

conjugated estrogens, estradiol used in HRT can

Back 65

exacerbate migraine, induce auras in isolation