Download Ms. Martinez LSHS 2010

Ms. Martinez
LSHS
2010
For hundreds of years,
societies have maintained a
certain fascination with the
bizarre and the unknown.
There are many conditions that
happen to individuals,
explained and unexplained…
Let’s watch:
http://abcnews.go.com/Primetime/Video/playerIndex?id=2264698
“The Wolfman”
Hypertrichosis
Hypertrichosis is a rare genetic
disorder where individuals have:
Excessive growth of hair
Excessive hair in areas of the
body that do not normally grow
hair
History of the Disease
Hypertrichosis has attracted
attention.
Many affected individuals
became “exhibitionists.”
Russian, Theodoro Petrov,
who was known as Jo-Jo the
“Dog-Faced Boy.”
As children, Danny Gomez
and his brother, Larry, were
exhibited like animals and
called, “Wolf Children. ”
How did the Gomez
brothers Inherit
Hypertrichosis?
a little genetics….
DNA, Genes, and Chromosomes
The DNA in your genes
gives instructions that
makes you who you are.
Your body’s
chromosomes contain
about 40,000 genes.
Everything has genes.
Genes are sequences
of DNA located on the
chromosomes that
determine which
protein will be made.
Genes cluster
together to form a
chromosome.
Humans have 46
chromosomes or 23
pairs.
Karyotypes
Largest
A karyotype is an
organized profile
of an individual’s
chromosomes.
Chromosomes are
arranged and
numbered by size,
from largest to
smallest.
Smallest
Humans have 46 chromosomes or 23 pairs
in all diplod cells.
Diploid cells are all cells EXCEPT the
reproductive cells (egg and sperm).
Remember, 2n=46
The first 22 of these pairs are called autosomes.
The last pair of chromosomes are sex
chromosomes, X and Y.
An XX person = female
An XY person = ”guy”
Meiosis and Fertilization
Meiosis is the process by which haploid gametes are
formed.
Gametes are sperm (male) and egg (female).
Gametes are haploid cells because they have half the
number of chromosomes
Haploid cells are represented by n=23
During fertilization, haploid gametes (n)
fuse to form a Zygote (2n).
Danny Gomez received one set of chromosomes
(haploid; n) from each parent:
his mother (n) and his father (n)
Danny (and all humans) are diploid (2n)
organisms
n=23
n=23
Haploid
Haploid
2n=46
Diploid
Sex-Linked Genes
Remember the X and Y
chromosomes?
They have many other genes
that are unrelated to gender.
A gene on the X
chromosome is called a sexlinked gene.
Danny Gomez has
Congenital Generalized
Hypertrichosis, (CGH).
CGH was passed from
Danny’s mother to him.
Sex-linked inheritance
pattern from a heterozygote
mother and unaffected
father
“Vampires”
Legend tells us that vampires come
out at night.
Why?
The sun will kill them.
They seek fresh blood.
Why?
Their bodies dry up due to lack of
blood
New blood refreshes their bodies and
gives them energy and certain
powers.
Porphyria
The victims of the disease have been labeled
“Vampires."
This condition has affected all sorts of people
including Mary, Queen of Scots and George
III.
Mary, Queen of Scots , 8
December 1542 – 8 February
1587) was Scottish queen
regnant from 14 December
1542 to 24 July 1567. Queen
Elizabeth I was her cousin.
George III (George William
Frederick; 4 June 1738 – 29
January 1820 was King of Great
Britain and King of Ireland from
25 October 1760 until the union
of these two countries on 1
January 1801, after which he was
King of the United Kingdom of
Great Britain and Ireland until
his death.
Porphyria is a very rare Dominant
genetic disorder caused by
problems breaking down
important chemicals in the body
called porphyrins.
Individuals who have Porphyria have abnormal
enzymes and the body cannot convert
porphyrins into heme.
In short, Heme is what keeps iron from rusting in
our blood, which combines with globin to make
hemoglobin, which is the thing in our red blood
cells that carries oxygen.
So Why the link between
Porphyria and Vampires?
Individuals with Porphyria
have many of the following
symptoms:
Exceedingly sensitive to sunlight-
exposure can cause burning of the skin
and disfigurements such as scarring
Noses and fingers may wither up and fall
off
Lips and gums may tighten up so much
that the teeth project like fangs
Reddish-brown urine and/or teeth
Anemia
Hundreds of years ago, victims might
have tried to medicate themselves by
drinking blood.
“Smurfs”
Yes, blue people exist
here and there in the
real world.
There are two
conditions that cause
people to live and be
(literally) blue:
1. Methemoglobinemia—
genetic disorder
2. Argyria—chemical
induced
Methemoglobinemia
Methemoglobinemia is a RECESSIVE blood
disorder in which the blood carries less-thannormal amounts of oxygen, making the blood
appear blue.
Hemoglobin is the oxygen-carrying molecule
found in red blood cells.
People with Methemoglobinemia have an
abnormal amount of hemoglobin built up in
the blood.
There have been reports of blue families
through history that could be explained by
inheriting the Methemoglobinemia gene.
Martin Fugate emigrated from France in 1820
and married Elizabeth Smith, a Kentucky
native.
Apparently, both had the very rare recessive
gene for Methemoglobinemia.
Four of their seven children were blue!
The family was known as the Blue Fugates of
Kentucky.
The exact reason for their color wasn’t known
until medical tests were conducted in the
1960s.
Just so you know…
Methemoglobinemia in
DOGS: is not a genetic
disorder, but a symptom
of poisoning.
The main causes are:
bad reactions to
medications.
accidentally swallowing
human painkillers such as
Tylenol or Advil.
getting sprayed in the
face by a skunk.
Argyria
Before the advent of
antibiotics, silver nitrate and
colloidal silver were used as
antiseptics.
Argyria is a condition caused
by improper exposure to
chemical forms of the element
silver, silver dust, or silver
compounds.
The skin becomes blue or
bluish-grey colored.
Captain Fred Walters was prescribed silver as a remedy
for a degenerative neural disease.
At the time, the poisonous effects of silver were
unknown.
By 1891, he was exhibiting himself at side shows for
profit.
His heart gave out in 1923; he died of silver poisoning.
Paul Karason began using colloidal silver 15
years ago by rubbing the concoction on his
skin to treat dermatitis, and not by drinking
it.
Karason, who is sometimes referred to as
“Papa Smurf” continues to drink colloidal
silver as a cure-all.
Rosemary Jacobs
began using nose
drops containing
colloidal silver
when she was 11
years old.
Within a few
years, her skin
had turned blue.
Jacobs is
campaigning
against colloidal
silver dietary
supplements
because of what
happened to her.