Down's syndrome gene identified (BBC)

[eppur_se_muova]

Scientists believe they have found a possible cause for mental impairment in Down's syndrome.

They have identified a gene that, if over-produced, can cause some brain cells to stop working properly.

The next step, say the US researchers in journal Neuron, is to find the mechanism for the process.

This, they say, could ultimately lead to finding a way to "turn down" the gene expression so mental decline might be stopped or even reversed.
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more: http://news.bbc.co.uk/2/hi/health/5151232.stm

[HysteryDiagnosis]

1. ROS

Padiat. Praxis. 59: 703-708 (2001)
Physicians Recognize the Importance of Antioxidants in the Long Term Management of Down Syndrome
A recent review published by Drs. Gert Lubec and Ephrem Engidawork of the Department of Pediatrics, University of Vienna (Journal of Neurology, 2002, Vol 249: 1347-1356) eloquently outlines the scientific rationale for the need for increased antioxidant supplementation in the diets of persons with Down syndrome.

These scientists based their argument on two well-documented facts. First, because of the extra copy of chromosome 21, persons with Down syndrome produce more free radicals in their body. Scientists call free radicals, reactive oxygen species or ROS. Because ROS are highly reactive with other chemicals (one might even broadly compare their action to everyday cleaning agents like bleach), they can damage cell membranes, proteins and DNA in the body and decrease the body�s ability to function properly. This would include body processes like cognition (the ability to learn), immunity and even muscle tone.

Secondly, Lubec and Ephrem explain that ROS adversely affects health by the under or over production of proteins, called transcription factors or TFs, that regulate expression of our body�s blueprint for living, DNA. For instance they state, �ROS modulate TFs and TFs modulate ROS generation; the consequence of any imbalance may be neuronal death and neurodegeneration in DS�. The authors go on to explain that many TFs that are involved in genetically programmed cell death (apoptosis) are found in elevated levels in the brains of persons with DS. They point out that �Apoptosis of neurons and glial cells (brain cells-editor) may be responsible for the multitude for the multitude of pathological findings in the fetus and later in life when Alzheimer�s disease like neuropathological findings occurs from the fourth decade. Enhanced apoptosis in DS brain, can be caused by TFs and ROS�.

Importantly Lubec and Ephrem note, �Although we discussed the brain exclusively, we are aware that these pathogenetic principles of TF and ROS abnormalities may be extrapolated to other organ systems, such as the heart and dysmorphic (abnormality of shape-editor) features�.

They conclude by stating; �Therapeutic modalities that target these factors (ROS and TGs-editor) including antioxidants and caspase inhibitors might have some benefit in alleviating the symptoms of DS�.

Finally, these scientists acknowledge in their paper the abundance of data that support their conclusions as well as an admonition to the scientific community about the lack of research into the specific causes of abnormal changes in body functions in persons with Down syndrome:

�We could add significant material from the literature supporting the involvement of TFs and ROS but for the readability and because the length of this review (82 scientific papers are cited in their paper-editor) we have to limit evidence and apologize to many important contributors to the subject for not having them cited. We also do not ignore many other facts and findings that may well contribute to the pathogenesis of DS.�

���there is still therapeutic nihilism (�skepticism as to the therapeutic value of a drug or method� � Webster�s Third New International Dictionary-editor) in DS. More than a century after the description of DS and with a high incidence in all populations, specific brain research is still far from adequate.�

All quotes excerpted from: Lubec, G. and E. Engidawork. 2002. The brain in Down syndrome (Trisomy 21). Journal of Neurology, Vol. 249: 1347-1356 and Webster�s Third New International Dictionary of the English Language: Unabridged, 1993, Merriam-Webster, Inc., Springfield, MA.