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Celiac disease is defined as a genetic disorder associated with malnutrition where a person is unable to digest foods which contain the protein gluten, more specifically things that are made from wheat, rye, barely and oats. Though the research of this disease has only recently become popular, the accepted belief is that it is a purely genetic disease that can be triggered by a number of things. This disease often goes undiagnosed because it is so easily mistaken for various other diseases due to the common symptoms. Almost all of the complications and symptoms that arise from this are due to the body's inability to absorb nutrients. The only treatment for this is a gluten free diet that has been found to be highly effective.
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Causes

Celiac, while genetic, can lie dormant for a long period of time, or possibly not even become active at all. It can be triggered through numerous means such as surgery, pregnancy, childbirth, viral infection, or emotional stress. It does tend to become evident in children fairly early on though which allows for more immediate treatment. It seems to be strongly associated with specific HLA genes that result in an immune reaction causing the body to attack itself (autoimmune). This leads to malabsorption of nutrients due to the inflammation and damage of the villi in the intestine (the organs that are responsible for the absorption of the nutrients which are consumed). This is shown in the image below.


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Symptoms

Most commonly the symptoms begin in children under the age of one, though like stated before they can appear much later in life due to stressors. Almost every symptom is a result of malabsorption; in fact malabsorption is the only symptom of celiac itself. The symptoms which become evident include diarrhea, short stature, anemia, weight loss, vomiting, poor appetite, protruding abdomen, gas, bone pain, behavior changes, muscle cramps, fatigue, joint pain, seizures, numbness in legs, aphthous ulcers, dermatitis herpertiformis, tooth discoloration, and missed menstrual period.
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A&B are a healthy intestine C&D is a person with celiac




Diagnosis

Due to the similarity of symptoms between this and numerous other diseases it can be extremely hard to diagnose. The most definite way to diagnose this is by performing a biopsy on the small intestine and examining the villi. Another possibility is through a blood test because there may be a higher than normal number of antibodies present. The antibodies are very specific making it easy to identify them as the ones associated with celiac. These antibodies include, antigliadin, antiendomysium and antireticulin.
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Complications

Celiac can cause many severe complications if it is left undiagnosed. Due to the malabsorbtion of nutrients many other diseases and illnesses may arise. These can include, but are not limited to intestinal cancer such as lymphoma and adenocarcinoma, osteoporosis, miscarriages and malformation of a baby such as by neural tube defects if the mother is undiagnosed, and seizures. Like any other illness if it is left untreated it only gets worse and can lead to the destruction and failure of many vital organs and eventually even lead to death if left long enough.

Gluten-Free Diet

The treatment for celiac, while rather simple can be very overwhelming. The only, and most effective treatment is to eliminate gluten from your diet entirely. That means no wheat, barley, rye, oats or anything that contains those or any derivatives of those. Some may even have to be put on a lactose free diet in order to allow your stomach to recover fully. Many families choose different paths when approaching a gluten free diet; the most effective in my opinion seems to be when the entire household is placed on the diet. Luckily there are so many alternatives for food that this is entirely possible without having to give up any of your favorite foods! Many brands are now creating gluten free options due to the increase in diagnoses of celiac. Though when eating gluten free you will quickly see that what ends up tasting the best is what you make from scratch (especially when dealing with bread items), you can find many great items in the frozen food and boxed food sections. They do make gluten free flour so that you have the ability to make bread, cakes, and any other item you desire.
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Other Resources
The Celiac Disease Foundation

NDDIC

Celiac.com


Bibliography

Joneja, Janice M. Digestion, Diet and Disease: Irritable Bowel Syndrome and Gastrointestinal Function. New York, NJ: Rutgers UP, 2004. 82-84

Massimini, Kathy, ed. Genetic Disorders Sourcebook: Basic Consumer Health Information about Hereditary Diseases and Disorders. 2nd ed. Danbury: Omnigraphics, Incorporated, 2001. 559-69

Reilly, Phillip R. Is It in Your Genes?: How Genes Influence Common Disorders and Diseases That affect You and Your Family. New York: Cold Spring Harbor Laboratory P, 2004. 116-18
For image web addresses click on the image

Genome, far more then a blueprint dna.jpgWhat components make up the human genome?
  • Each cell in our body has a set number 46 chromosomes, with exception to our sex cells which only contain 23.
  • All our chromosomes are held inside a membrane bound organelle called the nucleus.
  • Each chromosome encompasses thousands of genes that regulate proteins in our body.
  • Every strand of DNA (Deoxyribonucleic Acid) is made up of nucleotides, organic compounds that help foster metabolism.
  • The nucleotides used are G, C, A, and T.
  • Ribosomes, mRNA, tRNA, and polymerase are all used to help synthesize proteins.

Other roles of our genome
  • Inheritance of traits from parents to offspring.
  • Specialization during embryonic development for multiple task.
  • Maintanence of homeostasis.
  • Mitosis for growth, repair and reproduction.
  • Meiosis for sexual reproduction.
  • Stem cells with the ability to specialize.
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Historical Discoveries:
  • Gregor Mendel is the father of genetics (1822-1884)
  • By breeding pea plants, he concluded that traits (genes) are inherited from parent to offspring. He believed that genes can be more dominant then one another and expressed his findings through using a Punnett square.
  • The Punnett square displays different probabilities for different characteristics using dominant and recessive alleles.
  • Francis Crick and James Watson found DNA was made of nucleic acid
Mutations in our DNA cause Disease Eric-down-syndrome.jpg
  • Breast/Colon Cancer- effects cell growth and causes tumors
  • Alzheimers Disease- effects memory, brain capacity, dementia
  • Hutingtons Disease- effects brain efficiency, processing and mood.
  • Down Syndrome- effects chromosome count
  • Cystic Fibrosis - causes mucus to become thick and sticky
  • Celiac Disease - protein gluten effects digestion.

Down Syndrome is a genetic disorder in which a child is born with one less or one more chromosome in every somatic cell. This means each gene may be producing more proteins then actually neccessary. It is due to non disjunction during fertilization where chromosome 21 fails to split properly.

"Genome" by Matt Ridley
I read Genome, a very interesting and intellectual read by Matt Ridley. Each chapter was directed around a certain topic incorporated with our chromosomes. 23 chapters for 23 different chromosomes. He did an excellent job keeping my interest as he explained the detailed subject of our genome. One of my favorite chapters he spoke of was Fate. He explained that, "the sufferers have the mutation, not the gene." It is when cells and genes divide that copying mistakes are made. The bottom line is our genes are predestined fates for all of us. Disease boils down to luck or misfortune. Your fate is entirely in your genes.

Interesting Analogy: If our Genome were compressed into a book...
  • the book would be one billion words long
  • the book would have 5000 volumes, each with 300 pages
  • the book fits into a cell the size of a pin point
  • the book is in every cell in the human body


http://www.allaboutscience.org/dna-double-helix-video.htm

*Works Cited: Ridley, Matt. Genome. Harper Collins, 1999.
DNA from the Beginning. Josiah Macy Jr.. 10 Dec 2008 http://www.dnaftb.org/dnaftb/1/concept/.
Genetic Science Learning Center. The University of Utah. 10 Dec 2008 http://learn.genetics.utah.edu/content/disorders/whataregd/.