Loading presentation...

Present Remotely

Send the link below via email or IM

Copy

Present to your audience

Start remote presentation

  • Invited audience members will follow you as you navigate and present
  • People invited to a presentation do not need a Prezi account
  • This link expires 10 minutes after you close the presentation
  • A maximum of 30 users can follow your presentation
  • Learn more about this feature in our knowledge base article

Do you really want to delete this prezi?

Neither you, nor the coeditors you shared it with will be able to recover it again.

DeleteCancel

Make your likes visible on Facebook?

Connect your Facebook account to Prezi and let your likes appear on your timeline.
You can change this under Settings & Account at any time.

No, thanks

Cockayne Syndrome

No description
by

Jaime Linzmayer

on 5 November 2015

Comments (0)

Please log in to add your comment.

Report abuse

Transcript of Cockayne Syndrome

Cure or Treatment
There is no cure for Cockayne syndrome and a medication or chemical treatment is yet to be discovered. For now, those suffering from this disease are being treated with physical and occupation therapy. Therapy aids in maintaining joint movement and to reduce muscle contractions. Those affected are also kept out of direct sunlight and are required to always be fully clothed and protected with sunscreen.
Current Research
Many studies are being performed examining the specifics in which Cockayne Syndrome affects the human body. Due to its extreme rarity, not much information has been concluded from this research.
This is rRNA, the molecule that scientists discovered was not being produced in the body of those with Cockayne Syndrome.
Effect on the Endocrine System
Individuals suffering from Cockayne Syndrome are unable to reproduce due to inability to complete sexual maturation. The endocrine system is not majorly affected due to Cockayne Syndrome, but one of the main difficulties is the Pancreas and its resistance to release insulin. Many who suffer from Cockayne Syndrome often possess Type 1 Diabetes and are treated with insulin injections. Another hormone that is lacking or may not be produced at all within the individual with this syndrome is called PRELP which is a small leucine-rich peptide crucial in the binding of collagen to cartilage and membranes.
Symptoms
Apparent symptoms that may occur due to Cockayne Syndrome:
Cockayne Syndrome
By: Cassie Bratton, Jaime Linzmayer, Taylor Smith
Causes of Cockayne Syndrome
Cockayne Syndrome is most common in infants and children, already prominent at birth or prior. These human beings who suffer from this disorder receive mutated ERCC6 and ERCC8 genes due to both parents having an autosomal recessive gene pattern.
This disorder can be made worse with exposure to sunlight or other ultraviolet rays.
There are three types of Cockayne Syndrome. The first type is when semi-severe symptoms appear about a year after birth. The second type is very severe symptoms appearing directly at birth. The third type is milder symptoms that come out later on in life.
Narrow Face
Small Head for Body Size
Mental Retardation
Sensitivity to Sunlight
Short Stature
Kyphosis (hunched back)
Difficulty Walking
Tremors
Jerky Movements
Premature Aging
Hearing and Vision Difficulty
The average life expectancy for a child with Type 1 or Type 2 Cockayne Syndrome is 12 years of age. The oldest person known to have lived with Cockayne Syndrome is 38, though that human being only suffered from the mild symptoms of Type 3 Cockayne Syndrome.
One study done in 2007, found that the specific rRNA molecule was not being produced due to the defective CBS protein. This discovery is allowing doctors to examine further into what could be used in order to replace the CBS protein and potentially allow for the body to produce the rRNA molecules properly.
DONT GET CONFUSED
Due to these similar symptoms, often times Cockayne Syndrome is confused with Dwarfism or Progeria... THIS IS NOT THE CASE
Different genes and locations are affected in those disorders:
LMNA for Progeria (a rapid aging syndrome) and the skeletal dysplasias are the cause of Dwarfism (Deformations of the body and stature)
Effect on the Nervous System
Cockayne Syndrome does not target specifically one part of the central nervous system, but affects it all together. The growth of the entire nervous system is impaired in an individual with Cockayne Syndrome. One of the effects that can be pointed out within the nervous system is the calcification in the cortex and basal ganglia. Also with contractions of the spine, the spinal cord has difficulty growing at a proper rate. This abnormal development of the spinal cord does not cause direct damage to neurons throughout the body but sensations and stimuli may take much longer to be perceived by the individual.
Effects on Homeostasis
Due to the consistent death of neural cells, the homeostasis of the nervous system tissue is strongly affected often causing discrepancies and damage. In many cases of Cockayne syndrome, the metabolism of calcium and phosphate have been distorted and a disorder has occurred and developed.
Gene Mutation, Type 1
CSB and CSA genes (more specifically ERCC6 or ERCC8) are those affected by Cockayne Syndrome. These are the genes that make the proteins responsible for DNA repair prior to a problem arising.
ERCC6 (CSB)
- 65% of cases are due to mutation of the ERCC6 gene. This gene is found on the long arm of CHROMOSOME 5 at position 12.1.
ERCC8 (CSA)
- 35% of cases are due to the mutation of the ERCC8 gene. This gene is found on the long arm of CHROMOSOME 10 at position 11.23.
The mutation does not cause a frame shift but instead a disrupted structure. (Missense or nonsense substitution)
RANDOM FACT
Some syndromes are due to a complete absence of the CSB or CSA protein, whereas Cockayne Syndrome is due to a mutated CSB or CSA protein... Those with entirely absent CSB/CSA proteins are better off and healthier than those with a mutated version as it causes more difficulties within the genome.
Issues During Embryo Genesis
Initially, the formation of the ectoderm layer during embryogenesis is altered, affecting the development of the nervous system and neural pathways. Due to this issue, the mesoderm also has complications during development. This altered development is what causes the skeletal and muscular issues throughout patients with Cockayne syndrome such as a hunched back.
This is a photo of an ultrasound in which the baby has ectodermal development difficulties. In the top left picture the abnormally shaped head is shown, as the brain is underdeveloped.
Environmental Factors
The major environmental factor that affects babies with Cockayne Syndrome is their exposure to UV radiation. If a mother carrying a child with Cockayne syndrome is exposed to a lot of sun or goes into tanning beds, the baby's DNA repair genes become even more damaged and add to the effects of the mutated genes of Cockayne syndrome.
The physical symptoms of FAS (Fetal alcohol syndrome) are similar to those of Cockayne syndrome. The head/brain is underdeveloped and other aspects of the nervous system such as coordination and muscle/skeletal uses.
NOTE:
Phenotypic and Allelic Frequencies
These frequencies are measured using the combination of formulas from the Hardy-Weinberg theory. Within the population of the world about 1% of human beings are affected by Cockayne Syndrome.

p+q=1 and p2+2pq+q2=1

q2= 0.01
q=0.1
p=0.9
p2=0.81
2pq=0.088

In conclusion, about 90% of the world is entirely unaffected by this progressive congenital disorder, about 9% are carriers of this gene and 1% are affected.
In North America the odds of having Cockayne syndrome are 1 in 100 000 people as opposed to the higher frequencies worldwide.
A A
A
a
A
a
A a
A a
a a
Genetic Frequency
As an autosomal recessive disorder, Cockayne syndrome only affects the person when they carry both recessive genes for this allele. In the punnet square shown here, the probability of CS in 4 children from heterozygous parents is displayed. There is a 25% chance a child will be affected.
Hypothetical Pedigree
Aa
Aa
AA
Aa
Aa
aa
AA
A?
A?
**
*
* As an individual affected by Cockayne syndrome cannot reproduce, the pedigree will not continue beneath that person.
** We do not know the exact genotype of these individuals as it could either be a dominant or recessive gene (A or a).
P generation
F1 generation
Higher Frequency Case
Within Christian Arabs the carrier frequency for Cockayne syndrome is 6.79%, significantly higher than the worldwide average.This is due to the
Founder Effect
. The founder effect is when a smaller population moves from a larger population onto a more secluded area and is forced to mate with others only in the small population. Through the Founder Effect, recessive disorders often become more prominent and in higher frequencies.
CASE STUDY
2002, Saudi Arabia; the first report of multiple siblings with Cockayne Syndrome without inbreeding.
The first sister of three suffered symptoms towards the end of her first year of life. This is referred to as Type 1 Cockayne Syndrome. Both of her sisters suffered from Type 3 CS where the symptoms became apparent later in life.
The parents were unrelated and the father had 2 other wives with 11 unaffected children.
Their symptoms were all very different; 2 had cataracts, 1 only suffered from delay of growth and development, 1 had early global delay, etc. This case shows the variable degree of manifestation Cockayne syndrome has upon individuals, including but not limited to siblings or family members.
Unaffected
Affected
~Citations
Omim.org/entry/216400
http://www.landesbioscience.com/pdf/06AHmadCSPerry.pdf
www.pnas.org/content/100/43/15273.full
http://kidshealth.org/parent/medical/brain/fas.html
http://ghr.nlm.nlh.gov/condition/cockayne-syndrome
rarediseases.about.com/cs/cockaynesyndrome/a/032203.htm
www.drdayan.com
www.news-medical.net/news/2007/08/21/28941.aspx
http://www.geragogia.net/editoriali/earlyaging.html
www.telethon.it/en/funding-research/funded-projects/details/dissecting-the-molecular-basis-of-neurodegeneration-in-cockayne-syndrome
www.cockaynesyndrome.net/main
Apa formatting was unavailable for use on this program
Further questions may be answered via www.cockaynesyndrome.net/main
Contacts are also available on the website
This project was created in March-May 2014 and accredited to Cassie Bratton, Jaime Linzmayer and Taylor Smith of Central Memorial High School located in Calgary, Alberta.
Full transcript