Link between diseases and mutations

In 2001 I did a book review for the Canadian Family Physician entitled "Genome. The autobiography of a species in 23 chapters " by author Matt Riddley. Each chapter represented a chromosome.
In todays blog I want to review only chapter 9 where the author discusses the links between disease and mutation.
Human Blood Types fall into 4 groups-A, B, AB, and 0. Types A and B are "co-dominant versions" of the same gene , with 0 being the "recessive form " of it. In the 1960's a correlation was found between blood groups and diarrhea. Children with type 0 very much susceptible to infant diarrhea (Vibrio bacterium), Type A or B only to some strains, while group AB were resistant. So powerful is this resistance that they are virtually immune to cholera. This may also explain the prevalence of Group O in Native North Americans where this bacterium is rarely found.
Another example- Sickle cell anemia is a recessive gene mutation which causes red blood cells (RBC) in hypoxic (low oxygen) conditions to assume a sickle shape. Individuals with one copy of the gene are largely resistant to malaria presumable because the malaria parasite cannot invade the sickle shape of the RBC to complete the human portion of its cell cycle. In homozygous individuals i.e. with 2 copies, the anemia may be fatal. Not surprisingly one finds the sickle-cell mutated gene common in parts of West Africa were malaria is endemic, and in African -Americans presumably exported with the slave trade.
Third example- Cystic Fibrosis and typhoid fever. The mutated gene that causes this disease is located on chromosome 7. People with only one copy of the CFTR gene do not get cystic fibrosis but they are immune to the dysentery and fever caused by the Salmonella bacterium. Apparently the typhoid bacillus needs the normal version of the CFTR gene to invade the intestinal cells. We all know the fate of individuals with 2 genes.
Riddley cites other examples of the relation of genetic variants (mutations ) to resistance to infection. It would appear our genome is a written record of the endemic and pandemics we have experienced. Riddley goes so far as to propose that the Human Genome Project is founded upon a fallacy when he states "The projects declared aim is to publish the average or 'consensus' sequences of 200 different people. My question is: What will the genetic map look like a century from now?

Newsletter and Two Book Reviews

A recent World Health Organization (WHO) report predicts that for the year 2005, 35 million of the estimated 58 million deaths worldwide will be due to chronic diseases - conditions like cardiovascular, diabetes, and cancer. Also according to the WHO, reduction by just 2% a year in such deaths, would save over a 10 year period the lives of 36 million people. I gleaned this data from the Life Extension Newsletter.

Life Extension also publishes a monthly magazine and in one issue there was a book review on "The Perricone Weight-loss Diet" by Dr. Nicholas Perricone. Then just last night, Larry King interviewed Dr. A. Weil and his recent book "Healthy Aging ". I just had to have copies for my medical library and quickly rushed out to buy them today.

I found many similarities between the two books. Both authors are medical doctors. Both discuss the anti-inflammatory diet not only to prevent obesity but to protect the immune system from the ravages of aging. Both also have similar programs for the inevitable aging process.

• Dr. Weil calls the experience of well-being "the age of aging gracefully"
• Dr. Perricone: "A simple plan to lose the fat, the wrinkles, and the years."

I highly recommend these 2 books for their non-conventional approach to aging.

Assessing value for donations

With the ever expanding teaching and research facilities at our universities, and increasing financial targets of charities like, Alzheimer's society, The United Way, Cancer Care, Heart and Stroke Foundation and other private and/or public research foundations especially in the health care field not only put a strain on the public's charitable portfolio but have raised the question: "Are we getting money for our Bucks ?"
These institutions are largely financed by governments which need to show a more transparent annual fiscal reporting or else the public may become reluctant in making donations to what they are lead to believe are worthy charities. It would seem a fiscal evaluation like the recent Gomery inquiry would be most helpful. I would not be surprised if such a report found some evidence of wastage, inefficiency and maybe even irrelevance or redundancy.
As a footnote and word of caution I might add that the increasing frequency and rising costs of natural disasters such as hurricanes and earthquakes may in the future also reduce our contributions to these charities.
With our universities targeting especially their alumni for major donations it would seem that these institutions might be one of the first on the list for such fiscal inquiries.

Books and Art

There is no difference between a painting and a book. Both are works of art. The buyer of a painting goes to an art gallery to assess his goods,while a book collector visits the book store to view his potential treasure by reading the authors comments and/or a published book review. Facsimiles and/or copies of both can easily be made for sale. Before purchase both potential buyers often consult respective colleagues for an independent assessment. In the final analysis the purchase is often dependent of the buyer just liking the "item ".
As the years go by and the collector view their painting or reread their book, they often become even more attached to their purchase to the point where they are reluctant to either loan and/or sell their purchase. It is not surprising to find that the donation of art (collections) as well as books (libraries) are often made only by executors, i.e. made after the individual has died.
I recently added to my library "Natural Cures "They" don t want you to know about ". by Kevin Trudeau. My wife negatively commented about my purchase not being aware of the joy and satisfaction I get in purchasing this addition to my library