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    Roxanita is offline Senior Member
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    Chat Transcript: Biochem: Genetics of Common Diseases

    MEDICAL GENETICS

    Genetics of Common Diseases


    Now entering USMLE_Step_1 subroom.
    7:42 PM roxanita has joined subroom: USMLE_Step_1
    7:43 PM [usmle_guy] hi rox and mmw
    7:43 PM [usmle_guy] sorry i'm late, just got home
    7:43 PM [roxanita] I just got here, I had problems when signing in 
    7:43 PM [mmw] hi
    7:45 PM [roxanita] do you guys want to start?
    7:45 PM [mmw] yes
    7:46 PM [roxanita] “GENETIC OF COMMON DISEASES”
    7:47 PM [mmw] colon cancer ,breast cancer, DM
    7:47 PM [usmle_guy] hi lenh
    7:47 PM [lenhoxung] Hi
    7:49 PM [roxanita]So guys why do we say that most common diseases are multifactorial?
    7:49 PM [mmw] because we cannot determine just by the single gene defect for that kind of disease
    7:49 PM [usmle_guy] more than one genetic factor involved
    7:49 PM [lenhoxung] agree
    7:49 PM [roxanita] very good
    7:50 PM [roxanita] because most of them like heart dis, Ca, DBM have not only a GENETIC COMPONENT (usually POLYGENIC) but also ENVIRONMENTAL COMPONENT
    7:50 PM [mmw] yes rox
    7:51 PM [lenhoxung] yes
    7:51 PM [roxanita] that's why is multifactorial=many factors, like smoking for example
    7:51 PM [roxanita] What the "NORMAL DISTRIBUTION" means?
    7:51 PM [usmle_guy] falls into bell shaped curve or normal distribution
    7:51 PM [roxanita] yes usmle_guy
    7:51 PM [mmw] above the multifactorial threshold we will have disease or not?
    7:52 PM [roxanita] yes
    7:52 PM [roxanita] I think when TRESHOLD is low the PREVALENCE of disease is high right?
    7:53 PM [lenhoxung] yes
    7:53 PM [roxanita] because the multiple factors are involved in the cause of the traits (disease) they tend to follow a NORMAL DISTRIBUTION, we visualize it as a BELL SHAPED
    7:53 PM [roxanita] for example? BLOOD PRESSURE, HEIGHT, WEIGHT, IQ
    7:54 PM [mmw] heart disease
    7:54 PM [lenhoxung] CA
    7:55 PM [roxanita] and it really has a bell shape
    7:55 PM [usmle_guy] it does look like a bell
    7:55 PM [mmw] hi zoya
    7:55 PM [roxanita] what were you saying about Treshold mya?
    7:56 PM [mmw] I know what is above the threshold ,will have disease
    7:57 PM [roxanita] right, it's like an action potential, once it reaches the treshold the whole process will occur
    7:57 PM [mmw] I don't understand much about the bell shape
    7:58 PM [usmle_guy] this is an important concept in biostats and epi as far as the standard deviation calculations and normal distributions. usually at least one question on exam
    7:58 PM [mmw] male threshold is less than female treshold
    7:59 PM [mmw] yeh u know about my **
    7:59 PM [usmle_guy] cant be as bad as my biochem
    8:00 PM [lenhoxung] mmw. that applies for the general or just for a specific disease?
    8:00 PM [roxanita] look mya we are going to review biostat better, but just have in mind that, as usmle_guy said we should see it as a graphic of STD , for this you just need to remember this BELL SHAPED as a Normal distribution for multifactorial diseases 8:00 PM [mmw] specific disease like heart disease i think lenh
    8:01 PM [lenhoxung] yes, that ws i thought
    8:01 PM [mmw] thanks rox i remember now
    8:01 PM [roxanita] Lenh as they mention on the top of the page, diseases as Heart Dis, Cancer, Diabetes
    8:02 PM [lenhoxung] oh yeah, tx rox
    8:02 PM [roxanita] and also values as Height, Weight and IQ will have this “normal distribution” in a population
    8:03 PM [roxanita] for other specific traits with more genetic dominant component it may vary but let's continue
    8:03 PM [roxanita] usmle_guy you mentioned that TRESHOLD is lower for males?
    8:04 PM [usmle_guy] i think that was mmw
    8:04 PM [mmw] yes
    8:04 PM [roxanita] as we know the expression of the disease occurs when a specific TRESHOLD is reached
    8:05 PM [mmw] ok
    8:05 PM [roxanita] and we have seen through all the genetic notes that males overall are more affected than females regarding genetic diseases right?
    8:06 PM [roxanita] that's why for Males the treshold is LOW
    8:06 PM [an_bo_al] hello everyone
    8:06 PM [roxanita] Hi an-bo
    8:06 PM [usmle_guy] hi an bo al
    8:06 PM [roxanita] so when is easier to reach the treshold the prevalence of disease will be higher or lower?
    8:07 PM [mmw] higher i think
    8:08 PM [roxanita] Right mya 
    8:08 PM [mmw] thanku buddy
    8:08 PM [an_bo_al] I heard there are some first aid qs here but i cannot find them
    8:08 PM [roxanita] if the treshold is easier to reach the prevalence will be higher
    8:08 PM [roxanita] everybody agree?
    8:08 PM [an_bo_al] yes
    8:08 PM [lenhoxung] yes
    8:09 PM [mmw] agree
    8:09 PM [mmw] i got the concept rox
    8:09 PM [usmle_guy] look on the right of this chat you will see some text in boxes. the one like 5th down that says usmle step 1 questions are the first aid questions....just pick the subject and hit start
    8:09 PM [roxanita] What are are the Recurrence Risks for Multifatorial diseases?
    8:11 PM [mmw] in siblings 4.5% i think
    8:11 PM [mmw] uncle-niece risk 0.1%
    8:11 PM [mmw] 1st cousin risk 0.05%
    8:12 PM [mmw] am i right rox?
    8:12 PM [roxanita] yes mya, and as we know when we have a SINGLE-GENE DISORDER the mx of gene action is understood and the RECURRENCE RISK can be derived based on some principles of inheritance right?
    8:12 PM [roxanita] BUT........
    8:13 PM [roxanita] But with MULTIFACTORIAL diseases we have to use EMPIRICAL RECURRENCE RISKS
    8:13 PM [roxanita] in the right margen of the page we have the RECURRENCE RISKS for this kind of diseases?
    8:14 PM [lenhoxung] yes i c
    8:14 PM [mmw] yes as RR ( recurrent risk ) increase the # of affected relatives increases
    8:14 PM [roxanita] what features do we have here?
    8:14 PM [roxanita] 1st, are estimated empirically
    8:15 PM [mmw] as RR inc --->severity of the disease expression inc
    8:15 PM [roxanita] right
    8:15 PM [usmle_guy] agree
    8:15 PM [roxanita] also increases if the proband is a female
    8:16 PM [roxanita] because a member fo the lower risk it's suposse to be a femalE
    8:16 PM [roxanita] what else?
    8:17 PM [usmle_guy] i just walked in right before the chat, so i must confess that i didn't read this far
    8:17 PM [roxanita] it's ok usmle_guy
    8:18 PM [roxanita] Let's talk about NEURAL TUBE DEFECT
    8:18 PM [usmle_guy] high AFP
    8:18 PM [mmw] incr AFP
    8:19 PM [roxanita] thanks mya
    8:20 PM [roxanita] yes mya, so here in NTD's the risk for siblings is 2.5% which is much higher than risk for normal population
    8:21 PM [mmw] I am sorry I made all of u confused I think
    8:21 PM [roxanita] but there is a vitamin related to the prevention of this defect which is?
    8:21 PM [lenhoxung] Folic acid
    8:21 PM [roxanita] right Lenh
    8:22 PM [roxanita] Folic Acid can prevent 50-70% of NTD's if taken periconceptionally as dietary suplem
    8:22 PM [usmle_guy] when to give follic acid to prevent neural tube defects in newborn?
    8:22 PM [usmle_guy] read my mind rox
    8:23 PM [roxanita] What about studies on TWINS?
    8:23 PM [roxanita] what's the difference between MZ and DZ genetically talking?
    8:24 PM [mmw] 6 months prior to the pregnancy I think usmle!
    8:24 PM [roxanita] anybody ? : (
    8:25 PM [mmw] mono = identical twins
    8:25 PM [lenhoxung] MZ is exactly the same about genetic meterial
    8:25 PM [usmle_guy] dizygotic are fraternal twins
    8:25 PM [roxanita] yes
    8:25 PM [lenhoxung] DZ are sames as sibling
    8:25 PM [usmle_guy] two eggs are fertilized by two separate sperm to create two embryos
    8:26 PM [usmle_guy] MZ are identical twins, one egg is fertilized by one sperm and then splits
    8:27 PM [roxanita] so genetically talking MONOZYGOTES we expect CONCORDANCE of 100%
    8:27 PM [lenhoxung] yes rox
    8:27 PM [mmw] in DZ C=50%
    8:27 PM [roxanita] right mya, just like any sibling
    8:28 PM [roxanita] What is CONCORDANCE?
    8:28 PM [usmle_guy] if you learn better with pics like me here is DZ pic http://twinshost.homestead.com/files...altwinning.GIF and MZ pic http://twinshost.homestead.com/files...altwinning.GIF
    8:29 PM [lenhoxung] they share same traits
    8:29 PM [roxanita] right, Concordance means they share the same TRAITS, or genetic information like in MZ they have 100% concordance
    8:29 PM [mmw] thanku rox
    8:29 PM [roxanita] if they do not share are DISCORDANTS
    8:30 PM [roxanita] but even sharing the same traits, the expression of disease may vary depends on the Environment and condtitions where these twins were raised
    8:31 PM [lenhoxung] thanks rox
    8:32 PM [an_bo_al] : multifactorial inheritance
    8:32 PM [roxanita] so we call those other factors "BIASES"
    8:33 PM [roxanita] right an-bo
    8:33 PM [mmw] yes
    8:33 PM [an_bo_al] youre good roxa :cl
    8:33 PM [roxanita] in HERITABILITY we got a nice formula which we can use to measure the HERITABILITY of a TRAIT
    8:34 PM [lenhoxung] Heritability= Cmz-Cdz/1-Cdz
    8:34 PM [roxanita] right LENH ] HERITABILITY=(Cmz – Cdz) / (1 – Cdz)
    8:35 PM [roxanita] being C = Concordance
    8:37 PM [roxanita] so HERITABILITY is the proportion of variation in a trait causes by genes and we got the formula
    8:38 PM [usmle_guy] ok
    8:38 PM [roxanita] How is the HERITABILITY with ALCOHOLISM ?
    8:40 PM [lenhoxung] i dont know that
    8:40 PM [usmle_guy] is it multifactorial???
    8:40 PM [roxanita] the studies shown that even with other environm factors, the Heritability for OH is much higher in MZ than DZ
    8:41 PM [roxanita] but it's also multifactorial usmle_guy
    8:41 PM [roxanita] OH: MZ=0,6 DZ=0.3
    8:41 PM [lenhoxung] 3/7
    8:42 PM [an_bo_al] where did you get that from?
    8:42 PM [roxanita] and for SCHIZOPHRENIA?
    8:42 PM [lenhoxung] about 43%?
    8:43 PM [usmle_guy] 1% of general population has schizophrenia
    8:43 PM [roxanita]right, for SCHIZOPHRENIA the prevalence in the population is 1% but for those with family background it can be as high as 10%
    8:43 PM [roxanita] sad huh
    8:43 PM [usmle_guy] amazingly high percentage....that's why it stuck in my head
    8:43 PM [roxanita] and for adopted like 8%, still very high
    8:44 PM [roxanita] that's why we can't deny the genetic etiology in this problem, really high huh?
    8:44 PM [an_bo_al] it is really common to see schizo in pt w history
    8:45 PM [roxanita] What about Coronary Heart disease?
    8:45 PM [usmle_guy] #1 cause of death in u.s.
    8:46 PM [lenhoxung] 2-7 times higher in individiual with family history
    8:46 PM [an_bo_al] similar
    8:47 PM [lenhoxung] the more family menber have CHD, the higher the risk.
    8:47 PM [lenhoxung] and worse if more females
    8:47 PM [lenhoxung] and age<55
    8:48 PM [roxanita] right guys and here it applies that: Risk is higher if more family members affected, if more females affected and if the onset was at early age <55
    8:48 PM [lenhoxung] yes rox
    8:48 PM [microphage] hey guys, sorry I couldn't reply earlier, my mac doesn't like Java very much
    8:48 PM [roxanita] hey micro
    8:48 PM [microphage] Hey Rox
    8:49 PM [usmle_guy] no problem micro. welcome to the chat *welcome*
    8:49 PM [microphage] Thanks
    8:49 PM [roxanita] What's important about LDL Receptor-Associated Familial Hypercholesterolemia? what features we get here?
    8:51 PM [roxanita] let’s start…1) Mutation on LDL receptor, so we have a lack or disfunction of this receptor
    8:51 PM [usmle_guy] agree, LDL receptor defect
    8:51 PM [roxanita] so if we don't have receptors what happen?
    8:52 PM [usmle_guy] high cholesterol circulating on blood
    8:52 PM [lenhoxung] increase circulating LDL levels
    8:52 PM [an_bo_al] manifested by:
    8:52 PM [roxanita] remember that this is a AUTOSOMAL DOMINANT disease
    8:53 PM [roxanita]clinic: Increases risk of Coronary disease
    8:53 PM [an_bo_al] ok and clinically?
    8:54 PM [lenhoxung] 3-4 times higher for heterozygotes
    8:54 PM [roxanita] XANTHOMAS on eyelids, skin and tendons
    8:54 PM [lenhoxung] in CHD
    8:54 PM [usmle_guy] The prevalence of heterozygous FH is approximately 1 case per 500 persons. The prevalence of homozygous FH is 1 case per 1 million persons.
    8:54 PM [an_bo_al] nice
    8:54 PM [roxanita] accelerated atherosclerosis
    8:54 PM [lenhoxung] u read my mind usmle
    8:54 PM [roxanita] now…"CANCER"
    8:55 PM [roxanita] 2nd leading cause of death iN US *)
    8:55 PM [roxanita] right usmle-guy
    8:55 PM [usmle_guy] agree, cancer is 2nd leading cause of death in u.s.
    8:56 PM [usmle_guy] we mentioned heart disease as #1, cancer #2....what is number 3?
    8:56 PM [roxanita] and we can attribute 1/3 of cases to what common environmental habit?
    8:56 PM [usmle_guy] smoking
    8:57 PM [roxanita] right CIGARRETTE SMOKING :an
    8:57 PM [usmle_guy] wow....that guy really looks like he's smoking
    8:57 PM [roxanita] and another third to what other factor very common in US?
    8:57 PM [roxanita] lol
    8:57 PM [usmle_guy] Diet??
    8:58 PM [roxanita] yes Dietary Factors
    8:58 PM [usmle_guy] STROKE is 3rd leading cause of death in u.s.
    8:59 PM [an_bo_al] well what about EtOH?
    8:59 PM [roxanita] etoh?
    8:59 PM [an_bo_al] Alcohol is one of the most important risk factors
    8:59 PM [usmle_guy] agree that alcohol is a risk factor too....not quite as high as smoking and diet as far as cancer deaths because those 2 lead to lung and colon cancer which are relatively common and deadly....bad combo
    8:59 PM [roxanita] Inherited Cancer Syndromes are usually the result of a GERMLINE MUTATION of what kind of genes?
    9:00 PM [roxanita] when we talk about CANCER we better remember some kind of GENES which will be related to this or that type of cancer, remember guys the name of these genes?
    9:00 PM [lenhoxung] Proto-Oncogene or Tumor Suppressor Gene
    9:00 PM [roxanita] Right Lenh
    9:02 PM [an_bo_al] right
    9:02 PM [roxanita] a mutation in either a Tumor Suppresor Gene or Proto Oncogen will be responsible for these disease expression
    9:02 PM [usmle_guy] hi field trip
    9:03 PM [an_bo_al] prototipe disease of tumor supressor gene?
    9:03 PM [roxanita] what has to happen to these genes to mutate?
    9:03 PM [roxanita] for example a Protooncogen, what is its normal function?
    9:04 PM [mmw] cell growth
    9:04 PM [roxanita] right
    9:05 PM [an_bo_al] replication\transcription
    9:05 PM [roxanita] so, the mutation of this kind of gene will be because a GAIN OF FUNCTION, it just start dividing like crazy :gu
    9:05 PM [mmw] yes gain of fxn
    9:05 PM [roxanita] and what about TUMOR SUPPRESOR?
    9:06 PM [mmw] mut:loss of fxn for tumor supressor
    9:06 PM [lenhoxung] prevent tumor formation
    9:06 PM [usmle_guy] loss of function
    9:06 PM [roxanita] right, Tumor Supressor Gene main function is to CONTROL CELL PROLIFERATION
    9:06 PM [mmw] slowing up cell growth
    9:07 PM [roxanita] so the mutation of this Supressor Gene would cause LOSS OF FUNCTION
    9:07 PM [mmw] yes rox thanks
    9:07 PM [roxanita] In RETINOBLASTOMA what is the problem? what kind of gene is related here?
    9:08 PM [an_bo_al] Supressor
    9:08 PM [an_bo_al] Rb gene
    9:08 PM [mmw] mutataion in the RB gene and also the enviromental cause the other allele to become mutant too
    9:08 PM [lenhoxung] Supressor on chr 13
    9:08 PM [roxanita] right an-bo
    9:09 PM [roxanita] a mutation of the RB1, a Tumor Suppressor Gene on Chr 13 is the cause
    9:09 PM [mmw] yes
    9:09 PM [an_bo_al] mmw actually it depends if it is familiar form or not
    9:10 PM [roxanita] but remember that it is not determinant for this mutation only
    9:10 PM [mmw] yes an_bo_al i agree
    9:10 PM [lenhoxung] yes
    9:10 PM [roxanita] here we should remember the "TWO HIT MODEL"
    9:10 PM [an_bo_al] described by...
    9:10 PM [an_bo_al] rox is Knudson's hyphotesis
    9:10 PM [roxanita] Thanks An_bo I didn't know that
    9:10 PM [mmw] first hit is inherited
    9:11 PM [roxanita] right
    9:11 PM [roxanita] and second?
    9:11 PM [mmw] second is the somatic mutation in one somatic cell in the body
    9:11 PM [usmle_guy] agree
    9:11 PM [roxanita] yes the SECOND MUTATION must occur in the RETINOBLAST to cause the tumor formation
    9:12 PM [lenhoxung] agree rox
    9:12 PM [mmw] yes
    9:12 PM [an_bo_al] and in sporadic nonfamilial
    9:12 PM [an_bo_al] ?
    9:13 PM [roxanita]
    9:13 PM [mmw] peneterance for heterozygous gene carrier is 90%
    9:13 PM [roxanita] We also have this "TWO-HIT" model mutation in other inherited neoplasias like?
    9:13 PM [an_bo_al] both deletions occur as somatic mutations
    9:14 PM [mmw] breast cancer
    9:14 PM [lenhoxung] familiar breast cancer, colon cancer, melanoma, neurofibromatosis
    9:14 PM [roxanita] right others like: familial breast Ca, fam colon Ca, fam melanoma and Neurofibromatosis
    9:14 PM [mmw] familial colon cancer,
    9:15 PM [roxanita] and what about mutations in PROTO_ONCOGENES?
    9:16 PM [mmw] gain of function
    9:17 PM [roxanita] we got here for example the RET proto-oncogen mutation related with Multiple endocrine neoplasia: MEN 2A and MEN 2B
    9:17 PM [mmw] i mean mutation of oncoggen results gain of function
    9:18 PM [roxanita] right mya
    9:19 PM [mmw] and also medullar thyroid cancer i think
    9:19 PM [usmle_guy] some other examples are ras: a signal transduction molecule myc: a transcription factor src: a protein tyrosine kinase.
    9:19 PM [roxanita] another proto-oncogen mutation is related with CDK4 p.o. which CAUSEs Familial Melanoma
    9:20 PM [lenhoxung] CDK4 proto oncogene
    9:20 PM [mmw] familia melanoma
    9:20 PM [lenhoxung] yes mmw
    9:20 PM [roxanita] cigarrete smoking causes the mutation of which somatic gene?
    9:21 PM [lenhoxung] p53 gene
    9:22 PM [roxanita] important gene related with Lung Cancer p53 because p53 is related with DNA repair so if mutated damage cells will keep going causing tumors
    9:23 PM [mmw] thanku rox
    9:23 PM [roxanita] hey guys it's pretty late for our chat, I am sorry again I over extended it and we didn't finish
    9:23 PM [usmle_guy] thats ok, we started a little late anyway
    9:23 PM [roxanita] just some important genes ok
    9:23 PM [mmw] yeh
    9:23 PM [lenhoxung] agree
    9:24 PM [roxanita] for BREAST CANCER?
    9:24 PM [mmw] BRCA1 on cr 17
    9:24 PM [lenhoxung] BRCA1 & BRCA2
    9:24 PM [mmw] BRCA 2 cr 13
    9:24 PM [an_bo_al] her2 neu
    9:25 PM [roxanita] this is interesting, cause here we have a good example of relation between genes and environment
    9:25 PM [usmle_guy] agree BRCA
    9:25 PM [roxanita] yes guys BRCA 1 gene in Cr 17 (also related with ovarian Ca) and BRCA2 gene in Cr 13
    9:26 PM [roxanita] but don't forget that cigarrete smoking is also related with Breast cancer so also mutation in p53 tumor suppressor gene will be involved
    9:26 PM [mmw] ok
    9:27 PM [lenhoxung] yes
    9:27 PM [usmle_guy] agree
    9:27 PM [roxanita] isn't this interesting?
    9:27 PM [lenhoxung] oh yeah
    9:27 PM [usmle_guy] yes
    9:27 PM [mmw] yeh yeh yeh
    9:27 PM [roxanita] What about Colon cancer?
    9:27 PM [mmw] APC
    9:28 PM [lenhoxung] APC and several HNPCC genes
    9:28 PM [mmw] APC on cr 5 and HNPCC
    9:28 PM [roxanita] also share THE "2Hit model" by Knudson's teacher
    9:28 PM [an_bo_al] very well rox
    9:28 PM [roxanita] thanks an_bo
    9:28 PM [usmle_guy] cea
    9:28 PM [usmle_guy] oops, thats a tumor marker
    9:28 PM [usmle_guy] apc and hnpcc
    9:30 PM [roxanita] so in Colon cancer we have the mutation of APC (adenomatous polyposis coli) gene oN Cr5, which is A SUpressor gene
    9:31 PM [roxanita] but there is another kind of colon cancer related with HEREDITARY NONPOLYPOSIS COLORECTAL CANCER (HNPCC)
    9:31 PM [mmw] what about in alzheimer dis?
    9:32 PM [roxanita] in Alzheimer disease?
    9:33 PM [roxanita] very often subject in step 1
    9:33 PM [an_bo_al] what's very often asked? rox
    9:33 PM [roxanita] alzheimer, cause is very common in elderly in US
    9:33 PM [roxanita] in Alzheimer the mutation is on the Cr21 gene that encodes Beta-amyloid precursor protein (BAPP)
    9:33 PM [mmw] BAPP,presenillin,apolipoprotein E
    9:35 PM [roxanita] so because the mutation of BAPP and we will have a build up of beta amyloid plaques in the brain
    9:35 PM [roxanita] don't forget is very often in Down syndrome
    9:35 PM [mmw] yes
    9:36 PM [roxanita] early onset of alzheimer are related with mutation in what gene?
    9:36 PM [mmw] presenilllin gene on cr 1 and 14
    9:36 PM [roxanita] right
    9:37 PM [roxanita] and ApoE, why is it important?
    9:38 PM [lenhoxung] mutation in apo. e incre susceptibility to late onset form, relate to amyloid clearance in the brain
    9:38 PM [roxanita] remember BAPP like instead of GRANPA like BIGPA= BAPP, well it can help
    9:39 PM [lenhoxung] good tip, rox
    9:39 PM [roxanita] yes Lenh very good ApoE related with late onset
    9:40 PM [roxanita] because ApoE is related with amyloid clearance in the brain
    9:40 PM [mmw] thanks rox and lenh
    9:40 PM [mmw] yeh
    9:41 PM [roxanita] Melanoma is related with what gene mutation?
    9:41 PM [mmw] p16
    9:41 PM [mmw] CDK4
    9:42 PM [roxanita] right "p16 tumor suppressor gene" or the "CDK4 proto oncogen"
    9:42 PM [roxanita] last one DIABETES
    9:42 PM [roxanita] Type 1 Diabetes....
    9:43 PM [mmw] glucokinase ,insulin promoter factor and 2 hepatic nuclease factor
    9:43 PM [roxanita] which immune ceel is related with pancrea destruction here in DB1
    9:43 PM [usmle_guy] hla dr3 qand 4
    9:43 PM [lenhoxung] yes usmle
    9:44 PM [mmw] MHC II
    9:44 PM [roxanita] yes mutation in the II MHC is related
    9:45 PM [roxanita] but DB1 is considered as an AUTOIMMUNE DISEASE because the self reactive T Cells infiltrate and destroy the insulin producing islet cells in the pancreas
    9:46 PM [roxanita] agree?
    9:46 PM [usmle_guy] beta islet cell antibodies in 80%
    9:46 PM [mmw] yes rox
    9:46 PM [usmle_guy] agree rox
    9:46 PM [an_bo_al] yes
    9:46 PM [roxanita] Type 2 Diabetes
    9:47 PM [usmle_guy] multifactorial inheritance for type 2
    9:47 PM [mmw] agree
    9:47 PM [roxanita] there are no specific genes here right
    9:47 PM [usmle_guy] 90% concordance rate with identical twins
    9:47 PM [roxanita] right, multifactorial
    9:47 PM [mmw] agree usmle
    9:48 PM [roxanita] what IS MODY?
    9:48 PM [mmw] maturity onset diabetes of the young
    9:48 PM [usmle_guy] Maturity Onset Diabetes of the Young
    9:49 PM [roxanita] when it's seen in individuals younger than 25 y
    9:49 PM [roxanita] right guys and DBM it's also AD
    9:49 PM [mmw] yes
    9:49 PM [roxanita] and here we have the mutation of what mmw said before
    9:49 PM [roxanita] Glucokinase, Insulin promoter factor, and two hepatic nuclear factors
    9:50 PM [mmw] 
    9:50 PM [roxanita] answer this questions: …...
    9:50 PM [roxanita] Defect in Insulin production, which type?
    9:51 PM [usmle_guy] type 1
    9:51 PM [lenhoxung] 1
    9:51 PM [roxanita] Insulin Resistance defect? which type?
    9:51 PM [mmw] 2
    9:51 PM [roxanita] Early age of onset?
    9:52 PM [lenhoxung] 1
    9:52 PM [roxanita] ok
    9:52 PM [roxanita] Autoimmune disease?
    9:52 PM [usmle_guy] type 1
    9:52 PM [mmw] 1
    9:52 PM [lenhoxung] 1
    9:52 PM [roxanita] Obesity is often causing insulin resistance?
    9:52 PM [usmle_guy] 2
    9:52 PM [lenhoxung] 2
    9:52 PM [mmw] 2
    9:53 PM [roxanita] High Heritability?
    9:53 PM [mmw] 2
    9:53 PM [usmle_guy] 2
    9:53 PM [lenhoxung] 2
    9:53 PM [roxanita] well guys i know we haven't finished both chapters but don't you feel motivated to keep reading and finish all Genetics
    9:53 PM [mmw] yeh
    9:54 PM [mmw] thanku for the tips buddy
    9:54 PM [roxanita] It's kind of interesting
    9:54 PM [lenhoxung] thank you so much guys
    9:54 PM [an_bo_al] thanks
    9:54 PM [mmw] yeh very very interesting
    9:54 PM [mmw] :cl
    9:54 PM [roxanita] thank YOU guys
    9:54 PM [an_bo_al] do you have a schedule\topics posted?
    9:55 PM [usmle_guy] http://usmle.valuemd.com/ftopic56.html for schedule
    9:55 PM [usmle_guy] have a great weekend
    9:55 PM [roxanita] ok guys, Good night everybody
    9:55 PM [lenhoxung] Good night
    9:55 PM [usmle_guy] good night all
    9:55 PM [an_bo_al] bye
    9:55 PM [roxanita] thanks for coming an_bo_al
    9:56 PM [mmw] good night all thanku
    9:56 PM [roxanita] See you tomorrow at 1pm EST. Bye 

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