INCORRECT: NYT: DNA Mutations as diseases causes
Mort Zuckerman
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Subject: INCORRECT: NYT: DNA Mutations as diseases causes
Date: Mar 11, 2010 7:49 AM
ARTICLE BELOW.
==============================
Um, no. The vast majority of disease
is caused by mutations caused by infections.
This is the main reason for the lack
of genetic links.
You can find this out on your own
but you can also use my homepage
for starters:
http://www.actionlyme.org
Spirochetes as permanent infections:
http://www.ncbi.nlm.nih.gov/pubmed?term=19995919[uid]&cmd=DetailsSearch&log$=details
Spirochetes causing the New Great Imitators
(MS, ALS, Cancer, Lupus, Dementia):
http://www.actionlyme.org/CHP_9_IDSA_REVIEWS.htm
http://www.actionlyme.org/BRAIN_PERMANENT.htm
Fungal infections mutating Lymphocytes:
http://www.actionlyme.org/Pam3Cys_Version15.htm
(LYMErix-AIDS, as we like to call it)
Screening children for Lymphocyte defects
before vaccination in Egypt (anyway):
http://www.ncbi.nlm.nih.gov/pubmed/19396036?itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum&ordinalpos=3
"Measles virus (MV) causes transient but profound immunosuppression
resulting in increased susceptibility to secondary bacterial and viral
infections."
http://www3.interscience.wiley.com/journal/112125331/abstract?CRETRY=1&SRETRY=0
Activation of MS/Cancer/Epstein-Barr by
Borrelia (Lyme Disease and Relapsing Fever):
http://www.ncbi.nlm.nih.gov/pubmed?term=12630667[uid]&cmd=DetailsSearch&log$=details
Immunosuppressed Children (like Lyme) should not
get attenuated vaccines, but fully heat-killed
ones:
"Changes in the recommended interval between administration of immune
globulin and measles vaccination; and Updated information on adverse
events and contraindications, particularly for persons with severe HIV
infection, persons with a history of egg allergy or gelatin allergy,
persons with a history of thrombocytopenia, and persons receiving
steroid therapy."
http://www.ncbi.nlm.nih.gov/pubmed?term=9639369[uid]&cmd=DetailsSearch&log$=details
Like CHRONIC LYME/LYMErix-AIDS...,:
TLR/IRAK associated immunosuppression mechanisms of the HIV/Lyme
antigens, updated:
http://www3.interscience.wiley.com/cgi-bin/fulltext/122465130/HTMLSTART
Borna-Virus infection as a neurodevelopmental
model of AUTISM:
http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&cmd=link&linkname=pubmed_pubmed&uid=11861216&ordinalpos=1&log$=relatedarticles_seeall&logdbfrom=pubmed
ETC.
The Genome is not the key, but
exposure to pathogens or antigens
that modify the immune response by
subsequent antigens, and the biggest
culprit is fungi or fungal lipids.
Us'n whities aren't used to it.
We're from the North Countries, and we
haven't had time to adapt to the likes
of New England being changing into a
Tropical Rain Forest.
Did they officially move the recommended
Fall Foliage Travel weekend back two weeks
further towards winter?
They did.
Kathleen M. Dickson
http://www.actionlyme.org
http://www.relapsingfever.org
=======================================
http://www.nytimes.com/2010/03/11/health/research/11gene.html?hp=&pagewanted=print
March 10, 2010
Disease Cause Is Pinpointed With Genome
By NICHOLAS WADE
Two research teams have independently decoded the entire genome of
patients to find the exact genetic cause of their diseases. The
approach may offer a new start in the so far disappointing effort to
identify the genetic roots of major killers like heart disease,
diabetes and Alzheimer’s.
In the decade since the first full genetic code of a human was
sequenced for some $500 million, less than a dozen genomes had been
decoded, all of healthy people.
Geneticists said the new research showed it was now possible to
sequence the entire genome of a patient at reasonable cost and with
sufficient accuracy to be of practical use to medical researchers. One
subject’s genome cost just $50,000 to decode.
“We are finally about to turn the corner, and I suspect that in the
next few years human genetics will finally begin to systematically
deliver clinically meaningful findings,” said David B. Goldstein, a
Duke University geneticist who has criticized the current approach to
identifying genetic causes of common diseases.
Besides identifying disease genes, one team, in Seattle, was able to
make the first direct estimate of the number of mutations, or changes
in DNA, that are passed on from parent to child. They calculate that
of the three billion units in the human genome, 60 per generation are
changed by random mutation — considerably less than previously
thought.
The three diseases analyzed in the two reports, published online
Wednesday, are caused by single, rare mutations in a gene.
In one case, Richard A. Gibbs of the Baylor College of Medicine
sequenced the whole genome of his colleague Dr. James R. Lupski, a
prominent medical geneticist who has a nerve disease, Charcot-Marie-
Tooth neuropathy.
In the second, Leroy Hood and David J. Galas of the Institute for
Systems Biology in Seattle have decoded the genomes of two children
with two rare genetic diseases, and their parents.
More common diseases, like cancer, are thought to be caused by
mutations in several genes, and finding the causes was the principal
goal of the $3 billion human genome project. To that end, medical
geneticists have invested heavily over the last eight years in an
alluring shortcut.
But the shortcut was based on a premise that is turning out to be
incorrect. Scientists thought the mutations that caused common
diseases would themselves be common. So they first identified the
common mutations in the human population in a $100 million project
called the HapMap. Then they compared patients’ genomes with those of
healthy genomes. The comparisons relied on ingenious devices called
SNP chips, which scan just a tiny portion of the genome. (SNP,
pronounced “snip,” stands for single nucleotide polymorphism.) These
projects, called genome-wide association studies, each cost around $10
million or more.
The results of this costly international exercise have been
disappointing. About 2,000 sites on the human genome have been
statistically linked with various diseases, but in many cases the
sites are not inside working genes, suggesting there may be some
conceptual flaw in the statistics. And in most diseases the culprit
DNA was linked to only a small portion of all the cases of the
disease. It seemed that natural selection has weeded out any disease-
causing mutation before it becomes common.
The finding implies that common diseases, surprisingly, are caused by
rare, not common, mutations. In the last few months, researchers have
begun to conclude that a new approach is needed, one based on decoding
the entire genome of patients.
The new reports, though involving only single-gene diseases, suggest
that the whole-genome approach can be developed into a way of
exploring the roots of the common multigene diseases.
“We need a way of assessing rare variants better than the genomewide
association studies can do, and whole-genome sequencing is the only
way to do that,” Dr. Lupski said.
With 10 genomes of healthy humans sequenced, Dr. Gibbs, a specialist
in DNA sequencing, decided it was time to decode the genome of someone
with a genetic disease and asked his colleague Dr. Lupski to
volunteer.
Mutations in any of 39 genes can cause Charcot-Marie-Tooth, a disease
that impairs nerves to the hands and feet and causes muscle weakness.
Fifty thousand dollars later, Dr. Lupski turned out to have mutations
in an obscure gene called SH3TC2. The copy of the gene he inherited
from his father is mutated in one place, and the copy from his mother
in a second.
Both his parents had one good copy of the gene in addition to the
mutated one. A single good copy can generate enough, or nearly enough,
of the gene’s product for the nerves to work properly. Dr. Lupski’s
mother was free of the disease and his father had only mild symptoms.
In the genetic lottery that is human procreation, two of their eight
children inherited good copies of SH3TC2 from each parent; two
inherited the mother’s mutation but the father’s good copy and are
free of the disease; and four siblings including Dr. Lupski inherited
mutated copies from both parents. These four all have Charcot-Marie-
Tooth disease. The results are reported in The New England Journal of
Medicine.
In Seattle, Dr. Hood and Dr. Galas have also applied whole-genome
sequencing to disease. They analyzed the genome of a family of four,
in which the two children each have two single-gene diseases, called
Miller syndrome and ciliary dyskinesia. With four related genomes
available, the researchers could identify the causative genes. They
also improved the accuracy of the sequencing because DNA changes that
did not obey Mendel’s rules of inheritance could be classed as errors
in the decoding process.
The Seattle team believes whole-genome sequencing can be applied to
the study of the common multigene diseases and plans to sequence more
than 100 genomes next year, starting with multigenerational families.
The family whose genomes they report in Science were sequenced by a
company with a new DNA sequencing method, Complete Genomics of
Mountain View, Calif., at a cost of $25,000 each. Clifford Reid, the
chief executive, said that the company was scaling up to sequence 500
genomes a month and that for large projects the price per genome would
soon drop below $10,000. “We are on our way to the $5,000 genome,” he
said.
Dr. Reid said the HapMap and genomewide association studies were not a
mistake but “the best we could do at the time.” But they have not yet
revolutionized medicine, “which we are on the verge of doing,” he
said.
Dr. Goldstein, of Duke University, said the whole-genome sequencing
approach that was now possible should allow rapid progress. “I think
we are finally headed where we have long wanted to go,” he said.
"[Real] scientists are *fiercely* independent. That's the good
news."-- NIH's Top Fool, Anthony Fauci