Uncle John’s Heavy Duty Bathroom Reader@ (85 page)

Starbucks spends more on employee health insurance than it does on coffee beans.

WHATEVER

In September 2008, Framingham State College in Massachusetts sent a fund-raising letter to alumni. Here’s an excerpt:

With the recent economic downturn and loan crisis, it has become even more important for Framingham State College to receive your support. Blah, blah, blah, blah, blah, blah, blah, blah, blah, blah, blah, blah, blah, blah, blah, blah, blah, blah, blah, blah, blah, blah, blah, blah, blah.

Was it a goof? Did an incomplete draft get sent by mistake? No. The 312-word letter—which had 137 “blah”s—was supposed to be funny. However, many of the 6,000 recipients contacted the school and said they were insulted. Framingham’s VP of Admissions, Christopher Hendry, admitted that it was a “misguided and embarrassing attempt to connect with alumni in a different way.” Or as one graduate commented: “The fundraising letter was impudent and childish. Blah, blah, blah, blah, blah.”

“Do first things first, and second
things not at all.”
—Peter Drucker

“Inches make champions.”
—Vince Lombardi

To get a hippo to open its mouth, try tickling its nose.

PEOPLES AND
THEIR DISEASES

Uncle John said to Thom one day, “Write an article about ‘steeples and their freezers,’” but Thom must have misheard him
.

M
OM GENES

There are about 4,000 known inherited genetic diseases today—disorders caused by a mutation to a single gene, passed from parents to children. Many of these diseases occur in much higher frequencies among certain ethnic or demographic groups than others. Reason: Those groups, for one reason or another, intermarried primarily among themselves for a significant part of their history, thereby passing along the mutation that causes the disease. That fact has helped scientists better understand genetics over the past few decades, and much progress has been made in treating many of these disorders. Here is a look at just a few of these diseases, and their stories.

Disease:
Hereditary hemochromatosis (HH)

Cause and Symptoms:
More commonly known as “iron overload,” it’s caused by a mutation in a gene that produces a protein whose job it is to regulate iron absorption from food. The mutation allows overabsorption, which can lead to toxic iron levels and a wide variety of disorders, including type 2 diabetes, cirrhosis of the liver, and heart failure.

Who Gets It:
People with ancestry from Northern Europe (especially Scandinavia and the British Isles) are many times more likely than any other group to develop HH. Genetic studies say this is because the disease has its origins in a single Northern European ancestor who had the gene mutation about 40,000 years ago. The disorder spread throughout the population via that one person’s descendants, all the way to the present.

Extra:
According to geneticists, the disease became so prevalent because it actually had a plus side: Too much iron is harmful when you’ve got plenty of food, but when you haven’t got enough it’s
actually helpful, because we need at least some measure of iron for our bodies to function properly. That means that people with HH were more likely to survive when food was scarce—a common occurrence in ancient times—and, therefore, were more likely to live long enough to have children and pass on the mutation.

Water used by the average American in 1900: 10 gallons a day. In 2008: 100 gallons.

Disease:
Sickle cell disease (SCD)

Cause and Symptoms:
This disease is caused by a mutation to a gene that aids in the production of a type of hemoglobin (red blood cells), the oxygen-carrying component of blood. Normally these cells are disk-shaped and soft; the mutation causes them to become sickle- or c-shaped, rigid, and prone to rupture. This results in a variety of health problems, including severe anemia, clogging of the body’s capillaries, tissue and organ damage, and early death.

Who Gets It:
SCD is especially prevalent in people who live in or are descendants of people from sub-Saharan Africa. African Americans, for example, are 10 times more likely to have the disease than Caucasian Americans. And in parts of Central Africa it affects as much as 30 percent of regional populations. (It’s also found in people of Middle Eastern and Indian descent.) Recent genetic studies have determined that the original gene mutation that causes SCD didn’t happen just once to one person, but occurred independently at various times in different parts of Africa, and also in Saudi Arabia and possibly India. These original mutations, geneticists say, showed up between 70,000 and 150,000 years ago.

Extra:
SCD, like hereditary hemochromatosis, is so prevalent today because it also has a positive side. The disease thrives in tropical regions where malaria outbreaks are common—and people with certain forms of the disorder are actually resistant to malaria. (The malaria virus works by infecting the body’s red blood cells, and the red blood cells of people with SCD break down when infected—thereby preventing the virus from becoming established.)

Disease:
Tay-Sachs

Cause and Symptoms:
This devastating genetic disease is caused by mutations to a gene that normally helps produce an enzyme
that breaks down certain types of fatty acids. That leads to a buildup of these fatty acids in cells, especially brain nerve cells, beginning in the fetus. That results in severe mental and developmental disabilities, and is always fatal, usually by age five. (A much more rare form occurs in adults.) Tay-Sachs was named for Warren Tay, a British ophthalmologist who discovered a defining characteristic of the disease in 1881 (a “cherry red spot” in the retina of afflicted children), and American neurologist Bernard Sachs, who first noticed the prevalence of the disease among Jews in 1887.

What’s so remarkable about the 4th Syrian War (217 B.C.)? There was only one battle—and both sides used elephants.

Who Gets It:
Overall about 1 in 250 people carries the Tay-Sachs gene. In Ashkenazi Jews—1 in 27 carries it. (Ashkenazi Jews are those descended from the Jewish communities that lived in Northern and Eastern Europe since medieval times, and make up about 80% of the world’s Jewish population.) Geneticists say the mutation first occurred about 1,000 years ago, and has spread through the population since. Some have suggested that people with the mutation were more likely to survive tuberculosis outbreaks, but this has not been firmly established.

Extra:
Tay-Sachs also strikes 1 in 25 Cajuns in southern Louisiana. Geneticists have been able to trace the origin of that local occurrence to a single couple—believed to be non-Jewish—who lived in France in the 1700s. Oddly, the disease is also prevalent among French Canadians in southeastern Quebec, caused by a completely different mutation event to the same gene.

Disease:
Cystic fibrosis (CF)

Cause and Symptoms:
CF is caused by a mutation in the gene that regulates the makeup of fluids such as sweat, digestive juices, and mucus. It results in the formation of thick, sticky fluid that clogs the lungs and obstructs the function of the pancreas, preventing pancreatic enzymes from breaking down and absorbing nutrients in food. Victims usually die by the age of 40.

Who Gets It:
Cystic fibrosis occurs in about 1 in 3,000 Caucasian newborns in the United States—and only about 1 in 17,000 African Americans and 1 in 31,000 Asian Americans. It’s believed that the original CF gene mutation may have occurred as long as 50,000 years ago, probably in Northern Europe.

Extra:
Cystic fibrosis is one of the most common inherited genetic diseases among people of European descent, with 30,000 people affected in the United States alone. Just why such a deadly disease became so common is unknown, although some researchers believe people with CF may have some kind of protection from diseases like cholera and typhoid fever.

Disease:
Scleroderma

Cause and Symptoms:
This disease causes a hardening of the skin and/or internal organs. Scleroderma is very painful, can last for years, and can be fatal. It most commonly strikes people in their 40s or 50s, and affects more women than men. Exactly what causes the disease is unknown, but recent studies suggest that a mutation to a specific gene (known as
fibrillin-1
) is at the very least related to the disorder.

Who Gets It:
Scleroderma affects people of all races around the world, but for reasons unknown, occurs in especially high numbers among Choctaw Indians from Oklahoma. Researchers have traced the disease to five Choctaw families that lived in the 1700s, and postulate that the original mutation probably occurred hundreds of years earlier.

Extra:
The Choctaw are divided into several different tribes in various states today—but only the Oklahoma Choctaw have the high prevalence of the disease. This leads scientists to believe that the disease may be caused by a combination of genetic
and
environmental factors.

Disease:
Machado-Joseph disease (MJD)

Cause and Symptoms:
People with this rare disease have a gene mutation that results in abnormally long copies of a protein called
ataxin-3
. These proteins accumulate in brain cells, and, beginning anywhere from the late teens to the 50s, cause a loss of muscle control. This results in symptoms such as arm and leg weakness, a staggering gait often mistaken for drunkenness, difficulty in swallowing, and bulging eyes. The disease progresses slowly over the course of 5 to 30 years before resulting in death.

Who Gets It:
MJD is found almost exclusively in people with Portuguese ancestry, and especially those from the Azores—a chain of islands in the Atlantic Ocean controlled by Portugal. In
the United States about 1 in 4,000 Portuguese Americans has MJD. On the Azorean island of Flores the number skyrockets to 1 in 140.

The Catholic Church recognizes more than 10,000 saints. Four of them are Americans.

Extra:
The disease was only discovered in 1972, when Massachusetts doctors diagnosed it in members of a Portuguese-American family named Machado. They called it “Machado disease.” A few years later doctors found a similar disease in a California family named Joseph, also from Portugal, and named it “Joseph disease.” It took until 1981 for researchers to realize they were the same disease. It has been known as “Machado-Joseph disease” ever since.

RANDOM FACTS

• All the diseases mentioned here (except MJD) are
recessive
genetic disorders. That means that you have to receive a copy of the mutated gene from both of your parents to develop the disease. People with just one copy of the mutated gene, along with a normal copy (we have two copies of all of our genes—one from each parent), are simply
carriers
. If two carriers have children, they have a one in four chance of each of them passing the mutated copy to a child, in which case the child will contract the disorder.

• Machado-Joseph disease, on the other hand, is
dominant
rather than recessive. This means that receiving just one copy of the mutated gene from either parent will lead to the disease.

• Two famous people with sickle cell disease: jazz musician Miles Davis and pro football player Tiki Barber.

• The introduction of genetic testing has reduced the numbers of many genetic diseases drastically over the last few decades. In the 1970s, for example, a simple blood test was developed to determine whether someone carries the Tay-Sachs gene mutation. Since then, prospective parents have been able to determine whether they are carriers, and the number of Tay-Sachs cases worldwide has decreased by more than 90%.