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Diseases and Disease Databases http://biochem158.stanford.edu/

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Title: Diseases and Disease Databases http://biochem158.stanford.edu/


1
Diseases and Disease Databases http//biochem158.s
tanford.edu/
Doug Brutlag Departments of Biochemistry
Medicine Stanford University School of Medicine
2
Huntington Disease
  • Autosomal Dominant
  • On the tip of the short arm of chromosome 4
  • One bad gene causes disease (dominant)
  • Brain degeneration over 10-15 years until death

3
Huntington Disease
  • Autosomal Dominant
  • On the tip of the short arm of chromosome 4
  • One bad gene causes disease (dominant)
  • Brain degeneration over 10-15 years until death
  • Neurodegenerative disease
  • Loss of movement control
  • Loss of cognitive skills (dementia) and
    hallucinations
  • Depression, hostility, aggression and loss of
    inhibitions

4
Huntington Disease
  • Autosomal Dominant
  • On the tip of the short arm of chromosome 4
  • One bad gene causes disease (dominant)
  • Brain degeneration over 10-15 years until death
  • Neurodegenerative disease
  • Loss of movement control
  • Loss of cognitive skills (dementia) and
    hallucinations
  • Depression, hostility, aggression and loss of
    inhibitions
  • Dyskinesias
  • Chorea uncontrollable tics and involuntary
    movements of extremities, hyperkinesias
  • Dystonia uncontrollable muscle contractions
  • Dysphagia (difficulty in swallowing) and
    uncontrollable oral buccal dyskinesia
  • Bradykinesia, slow uncertain movements

5
The Inheritance
  • You are 20 years old.
  • Your father abandoned you and your mother when
    you only 2 years old.
  • Your father died this year and left you an
    inheritance.
  • He died from an autosomal dominant disease known
    as Huntingtons Chorea or Huntingtons Disease.
  • You have a 50 chance of inheriting this
    invariably fatal neurodegenerative disease.
  • But there is a genetic test for this disease that
    can tell you not only if you have the disease,
    and if you do, when you will die from it.
  • Would you take the genetic test or not?
  • Why?

6
Genetic Penetrance
7
NCBI National Center for Biotechnology
Information http//www.ncbi.nlm.nih.gov/
8
Genes and Diseasehttp//www.ncbi.nlm.nih.gov/books
/NBK22183/
9
Genes and Disease http//www.ncbi.nlm.nih.gov/book
s/NBK22183/
10
Huntington Disease http//www.ncbi.nlm.nih.gov/boo
ks/NBK22226/
11
Huntington Disease Genome View http//www.ncbi.nlm
.nih.gov/projects/mapview/map_search.cgi?taxid960
6queryHuntingtonANDgene5Bobj_type5Dqchr
12
Huntington Disease Gene http//www.ncbi.nlm.nih.go
v/gene/3064
13
Huntington Disease Gene http//www.ncbi.nlm.nih.go
v/gene/3064
14
MapViewer for Huntington
15
Huntingtin Protein http//www.ncbi.nlm.nih.gov/pro
tein/NP_002102.4
16
Huntingtin Protein http//www.ncbi.nlm.nih.gov/pro
tein/NP_002102.4
17
Huntington Disease Biosystem http//www.ncbi.nlm.n
ih.gov/gene/3064
18
Huntington Disease Gene Review http//www.ncbi.nlm
.nih.gov/books/NBK1305/
19
GeneTests GeneReviews for Huntingtons http//www
.ncbi.nlm.nih.gov/sites/GeneTests/
20
GeneTests for Huntington Diseasehttp//www.ncbi.nl
m.nih.gov/sites/GeneTests/
21
GeneTests GeneReviews http//www.ncbi.nlm.nih.go
v/sites/GeneTests/
22
OMIM for Huntington Disease http//www.ncbi.nlm.ni
h.gov/sites/GeneTests/
23
OMIM Home Page http//www.ncbi.nlm.nih.gov/omim
24
OMIM Home Page http//omim.org/
25
OMIM Coverage http//www.ncbi.nlm.nih.gov/Omim/mim
stats.html
September 29, 2011
26
Huntington Disease Search in OMIM http//www.ncbi.
nlm.nih.gov/omim
27
Huntington Disease Entry in OMIM http//www.ncbi.n
lm.nih.gov/omim/143100
28
Human Gene Mutation Database http//www.hgmd.cf.ac
.uk/ac/
29
Human Gene Mutation Database http//www.hgmd.cf.ac
.uk/ac/
30
Huntington Disease Entry in OMIM http//www.ncbi.n
lm.nih.gov/omim/143100
31
Entrez Gene for Huntington http//www.ncbi.nlm.nih
.gov/sites/entrez?itoolomim_DetailedDbFromomim
CmdLinkLinkNameomim_geneIdsFromResult143100
32
Genetics Home Reference http//ghr.nlm.nih.gov/
33
Genetics Home Reference for Huntington
Disease http//ghr.nlm.nih.gov/condition/huntingto
n-disease
34
Predictive Testing for Huntingtons Adverse
Psychological Events
35
Huntington Disease can Arise from Unequal
Crossing Over During Meiosis
  • Crossing over between maternal and paternal
    chromosomes
  • Unequal crossing over between maternal and
    paternal chromosomes

Maternal
Paternal
Offspring
Offspring
Maternal
Paternal
Offspring
Offspring
36
Age of Onset and Repeat Length
37
SNP Viewer for Huntington http//www.ncbi.nlm.nih.
gov/SNP/snp_ref.cgi?locusId3064
38
HGMD for Huntington http//www.hgmd.cf.ac.uk/ac/ge
ne.php?geneHD
39
Human Genome Nomenclature For Huntington http//ww
w.genenames.org/data/hgnc_data.php?hgnc_id4851
40
Cystic Fibrosis
41
Cystic Fibrosis
  • Autosomal (chromosome 7q31.2) recessive.
  • Inhibits many bodily secretions
  • Pancreatic digestive enzymes
  • Sweat glands
  • Lung mucosa in alveoli and bronchi
  • Infertility in males (gt97)
  • Cirrhosis of the liver
  • Hepatic steatosis
  • Caused by mutations in the CFTR gene that encodes
    a chloride ion channel that pumps Chloride ion
    and water out of cells.

42
Cystic Fibrosis Transmembrane Conductance
Regulator
43
Mutations Causing Cystic Fibrosis
44
Colorblindness in OMIM
45
Colorblindness in OMIM http//omim.org/entry/30380
0
46
Opsin1 Gene in OMIM http//omim.org/entry/300821
47
Opsin1MW Gene Entry http//www.ncbi.nlm.nih.gov/ge
ne/2652
48
Portrait of a Glitch
  • Revere La Noue, MFA, Stanford, 2005
  • What is this film about?
  • What classes of glitches are mentioned?
  • What do these glitches cause?
  • Why did I show this film?
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