Download X-linked recessive inheritance

EHLERS-DANLOS SYNDROME
By. Erik, Janelle, Kay and Ryan
http://geneticpeople.com/wp-content/uploads/2009/09/untitled1wk3.jpg
CLASSICAL (TYPE I & II) SYMPTOMS
-Skin Hyperextensibility (Stretchy (like Laffy Taffy!))
-Skin is velvety to the touch, smooth and easy to bruise and
tear
-Joint Hyper Mobility
-Leads to sprains, dislocations, and subluxations
-Slow and poor wound healing leading to wide scarring
-Muscle fatigue and pain
-Heart valve problems including mitral valve prolapse and aortic
root dilation
Classical Type I and II affects 1 in 10,000 to 20,000 people.
Work Cited from Mayo Clinic
HYPERMOBILITY (TYPE III) SYMPTOMS
-Loose, unstable, joints with many dislocations.
-Easy bruising
-Muscle fatigue and pain
-Chronic Degenerative joint disease
-Advanced premature osteoarthritis with chronic
pain
-Heart valve problems including mitral valve
prolapse and aortic root dilation
Hypermoblitiy affect approximatley 1 in 10,000
to 15,000 people
VASCULAR TYPE (TYPE IV) SYMPTOMS
-Fragile blood vessels and organs that are prone to tearing and rupture
-Thin, translucent skin that bruises easily
-Characteristic facial appearance, including protruding eyes, thin nose
and lips, sunken cheeks and a small chin
-Collapsed lung (pneumothorax)
-Heart valve problems including mitral valve prolapse and many others
http://www.ehlersdanlosnetwork.org/vascular-chest.jpg
The Vascular type of EDS is the most dangerous to the people it affects. It
is also one of the rarest of the six types affecting 1 in 100,000 to
200,000. There are two other types of EDS but they are extremely rare
and not well defined.
GENETIC OCCURENCES
The different conditions that contribute to the genetic occurrence of Ehlers-Danlos
Syndrome. Autosomal dominant inheritance where the child has a 50% chance
of inheriting the disease from the one parent has a 50% chance of passing on the
disease.
Autosomal recessive inheritance occurs when
both parents carry one copy of the mutated gene
will have a 25% passing on the gene
with each pregnancy.
X-linked dominant inheritance occurs differently in
men and women because of the X and Y chromosomes.
The male passes on his Y chromosome to all of his sons
and his X chromosome to all of his daughters.
Therefore, the sons of a man with an X-linked dominant
disorder will not be affected, but all of his daughters will
inherit the condition. Women pass on one or the other
of her X chromosomes to each child. Therefore, a woman
with an X-linked dominant disorder has a 50 percent
chance of having an affected daughter or son
with each pregnancy.
GENETIC OCCURENCE (CONTINUED)
X-linked recessive inheritance : The probability of passing on X-linked recessive disorder is also different
between men and women. The sons of a man with an X-linked recessive disorder are not affected, and his
daughters will carry one copy of the mutated gene With each pregnancy, a woman who carries an X-linked
recessive disorder has a 50 % chance of having sons who are affected and a 50% chance of having
daughters who carry one copy of the mutated gene.
Codominant inheritance : Both parents give a different version of a
gene, and both influence the resulting genetic trait. The
characteristics depend which versions of the gene are passed from parents to the
child
Mitochondrial inheritance: Mitochondrial disorders can affect
both males and females, only females can pass mutations in mitochondrial
DNA to their children
ED syndrome is an inherited genetic syndrome that affects the
genes by causing mutations in the genes.
( ADAMTS2, COL1A1, COL1A2, COL3A1 ,COL5A1, COL5A2, PLOD1, and TNXB, genes.)
The Collagen genes provide blueprints for the assembly of
collagens from protein. These molecules give structure and
strength to connective tissues throughout the body. Other
genes ADAMTS2, PLOD1, and TNXB give the instructions to the proteins to
work with the collagen. These genetic mutations cause
disruptions to the structure, as well as collagen production
processing problems. The genetic defect weakens connective
tissues in the bones, skin, and other parts of the body.
http://medpediamedia.com/u/Col3a1.jpg/Col3a1.jpg
EDS IN THE MEDIA
In this particular article we follow a young woman named Fiona and her journey
through EDS.
• By the age of 20, Fiona Kennedy was dislocating joints – elbows, knees, ankles,
shoulders, toes, ribs and fingers – 1000 times a year.
• At this age, the condition took a turn for the worse and the mass dislocations
began – she once had 18 shoulder dislocations in one day. But Fiona refused to
let the pain get the better of her, although she took no painkillers.
• Now 27, Fiona is enjoying her first few weeks without pain – or dislocations –
thanks to pioneering work by surgeon Gordon Mackay. A short time ago he
carried out the last of ten operations, which began in March 2007, using
techniques he perfected while working on injured sports stars.
•
Mr Mackay, one of the co-founders of the SPACE Clinic on Dalry Road along with
former rugby star Gregor Townsend, explains: "We used keyhole surgery so that
we could focus on the stretched tissue, which we were able to tighten."
•
For Fiona it has, so far, proved a complete cure from a condition which first
surfaced when she was 14. Stepping out of a car, she dislocated her kneecap. "I
was in plaster for a couple of weeks but I just thought it was one of those things."
http://edinburghnews.scotsman.com/features/Pioneering-op-helps-Fionasee.4821466.jp
EDS IN THE MEDIA
In severe cases the smallest day to day tasks are nearly
impossible. A young woman named Lisa has the disease and
finds it nearly impossible to play video games. She is constantly
dislocating her thumb as she plays the game. Instead of
surgery she bought a specialized glove to help keep her thumb
from dislocating.
Lisa's glove looked
similar to this.
http://edinburghnews.scotsman.com/features/Pioneering-op-helpsFiona-see.4821466.jp
Another young girl named Olivia has the same muatation. She
couldn't go outside and play without dislocating her knees or
hips. Instead of surgery she went with a Second Skin Suit
made out of Lyrcra. The suit holds her body together tightly so
the risk for dislocation is almost non-existent.
New innovations in technology are creating new braces for all
different types of EDS. The braces range from small finger
braces to full suits.
http://3.bp.blogspot.com/_KOnQqa
wDIkY/SqkbBVeCMEI/
members.dcsi.net.au
TEST QUESTION 1 & 2
Q1-What type of Elhers
Danlos Syndrome is the most
serious?
Q2-Which type has symptoms
that include Chronic
degenerative joint disease
and advanced premature
osteoarthritis?
Answer choices
A.Classical Type I and II
B. Hypermobility Type III
C. Vascular Type IV
TEST QUESTION 3 & 4
Q3-What is the goal of the
new surgery treatment for
EDS?
Q4- What body system are
the mutated genes affecting?
A. Increasing bloodflow
B. Stretching tight tissue
C. Increasing endorphins
D. Tightening stretched tissue
A. Digestive
B. Reproductive
C. Muscular
D. Excretory
CREDITS

This presentation was brought to you by: Kay
Bolerjack, Ryan Butler, Erik Holfelder and
Janelle Kloosterman in the Summer semester of
2010.
CREDITS



Kay Bolerjack- Research , content & photos
Ryan Butler/ Erik Holfelder- Worked diligently on the
symptoms, writing portion and content of this
presentation.
Janelle Kloosterman- Research, media & photos.
OUTLINE:
1.
2.
3.
4.
5.
6.
7.
8.
9.
Introduction (Laffy Taffy/ Stretches)
Introduction to ED syndrome (Ryan)
Types and symptoms
Current information and research
Genetic Occurences
Options for coping with syndrome (Article about girl
treatment)
Article of interest/scientific article connection
questions about this genetic disease
Work cited
WORK CITED
Centre for Genetics Education. "Ehlers-Danlos Syndrome." Genetics Home Reference. N.p., 25 July 2010.
Web. 26 July 2010. http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome.
Centre for Genetics Education. "If a genetic disorder runs in my family, what are the chances that
my children will have the condition?" Genetics Home Reference. N.p., 25 July 2010. Web. 26 July 2010.
http://ghr.nlm.nih.gov/handbook/inheritance/riskassessment.
Mayo Clinic Staff. "Ehlers-Danlos Syndrome Symptoms." Mayo Clinic. N.p., 8 July 2010. Web. 26 July
2010. <http://www.mayoclinic.com/health/ehlers-danlos-syndrome/DS00706/
DSECTION=symptoms>.
WORK CITED
Sheen, Volney L., and Christopher A. Walsh. "Periventricular Heterotopia: New Insights into Ehlers-Danlos
Syndrome ." Clinical Medical Research. N.p., 7 Sept. 2005. Web. 26 July 2010.
<http://www.clinmedres.org/cgi/content/full/3/4/229>.
Vickers, Judy. "Pioneering op helps Fiona see the back of daily dislocations." Edinburgh Evening
News. Johnston Press Digital Publishing, 24 Dec. 2008. Web.
26 July 2010.
<http://edinburghnews.scotsman.com/features/Pioneering-ophelps-Fiona-see.4821466.jp>.