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This is very interesting to me.   Let me tell you why:
I had a sister with Down Syndrome who died in 1954 at the age of 3 1/2. 
 I was 15 days old when she died
I was pregnant with my first child at 20 years old.  Concerned about 
genetics, I had a genetic work up done by a geneticist in Atlanta.  The 
genetic mapping he did showed that I have Trisomy 21.  Part of the 15th 
chromosome pair is broken off and attached to the 21st pair.  My odds 
at 20 of having a child with Down Syndrome were 1 out of 3000. I had an 
amniocentesis at 16 weeks to find out that I was carrying a healthy 
boy.  Four years later, at 24,  I repeated the pocess for another 
healthy boy.  When my second son was 4, my Parkinson symptoms began.  I 
was 28 at the time.  It took 4 years, countless tests and many doctors 
before my diagnosis of PD at 32.  Too many years of Sinemet, 1 
Pallidotomy and Bilateral DBS later, I am now living happily and 
independently in South Carolina with my husband of 8 years.  I am 53 
years old.

 Terrie Whitling-Starr


-----Original Message-----
From: rayilynlee <[log in to unmask]>
To: [log in to unmask]
Sent: Fri, 5 Sep 2008 3:50 pm
Subject: Down Syndrome & ESCs


Changes To Embryonic Stem Cells Caused By Down Syndrome Revealed 
ScienceDaily (Sep. 4, 2008) - Scientists investigating the mechanisms 
of Down Syndrome (DS) have revealed the earliest dev
elopmental changes 
in embryonic stem cells caused by an extra copy of human chromosome 21 
- the aberrant inheritance of which results in the condition. 
Lead by Dean Nizetic, Professor of Cellular and Molecular Biology at 
Barts and The London School of Medicine and Dentistry, the team 
utilised embryonic stem cells from a previously genetically engineered 
species of mice carrying a copy of human chromosome 21. 
They discovered that extra chromosome 21 - a genetic state known as 
trisomy 21 - disturbs a key regulating gene called NRSF or REST, which 
in turn disturbs the cascade of other genes that control normal 
development at the embryonic stem cell stage. Furthermore, they 
identified one gene (DYRK1A) on human chromosome 21, whose overdose in 
trisomy (DS) is responsible for the observed effects. 
Down Syndrome belongs to the group of conditions called 'aneuploidies', 
defined by an abnormal loss or gain of genetic material, i.e. fragments 
of chromosomes or whole chromosomes. Aneuploidies cause congenital 
anomalies that are a prime cause of infant death in Europe and the USA, 
and are currently on the increase with advancing maternal age in 
European countries. The number of people with DS in Europe exceeds half 
a million. 
The condition is more common than muscular dystrophy and cystic 
fibrosis, but the development of new therapeutic concepts is hindered 
by the fact that unlike muscular dystrophy and cystic fibrosis, where a 

single mutated gene causing the disease is known, the entire human 
chromosome 21 (containing around 300 genes) still has to be dissected 
into individual gene-dose contributions to the DS symptoms. 
Professor Nizetic, calling for further research into the components of 
the disturbed cascade he and his team have revealed said; "We hope that 
further research might lead to clues for the design of new therapeutic 
approaches tackling developmental delay, mental retardation, ageing and 
regeneration of brain cells, and Alzheimer's disease. In other words, 
we hope our work will open new routes to tackle the genetics of these 
health disorders, approaching them from the "back entrance", as 
dominant component-symptoms of Down Syndrome." 
Professor Nizetic's research was conducted in collaboration with 
scientists from UCL, NIMR, and the Institute of Cancer Research, and 
internationally with colleagues from the universities of Geneva, 
Barcelona, Sydney and San Francisco. 
 
Source: www.ScienceDaily.com 
 
Rayilyn Brown 
Director AZNPF 
Arizona Chapter National Parkinson Foundation 
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