Day 6: The End

So we have finished our quest for knowledge on the subject of Menkes disease. We dedicate this blog to Rick, the poor child who died from an incurable disease with no way to fight it. With this blog we aim to commemorate all of those who have fallen by Menkes and inform the public about it to prevent new victims and inspire new research on the subject. This has been an entertaining and educational assignment which has taught us more about genes and how a slight variation of the intricate pattern can have such terrible consequences.

For more information about the Disease go to:

Celso, Luis. (2000, July 26). Menkes disease. Retrieved from  http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2001000100027

Chang, Celia. (2009, November 4). Menkes disease. Retrieved from

     http://emedicine.medscape.com/article/1180460-overview

Haldeman, Chad. (2009, April 15). Menkes syndrome. Retrieved from http://www.nlm.nih.gov/medlineplus/ency/article/001160.htm

Menkes disease information page. (2009, October 30). Retrieved from

      http://www.ninds.nih.gov/disorders/menkes/menkes.htm

Day 5: Genetic Analisis

The case included no family pedigree so we created one.

Each X and Y represents the chromosomes while M and m represent the dominant gene, which is normal, and the recessive gene (m) that is Menkes.

Since Rick was a male he was much more prone to suffering from this disease because, since it’s X-linked, he only needed to receive one affected chromosome to gain the disease. Women are less likely to get the disease because they need to receive two affected X to suffer it, and if they only receive one she can live normally and just be a carrier, like Martha. This is a mother to son relationship no one would ever want.

Analysis Questions:

1. The mode of inheritance of Menkes Syndrome is recessive sex linked X linked disease (generally passed from mother to offspring), son is more likely to be affected

2. Martha has a sister Emily who is thinking about starting a family. She wonders if she, too, could have a child with Menkes syndrome. The chances that Emily is also a carrier of Menkes syndrome is  50%. The chances that a son of hers would be affected, assuming that the boy’s father does not have the Menkes gene, is  50%.

3. Martha’s brother George is also concerned that he could father son with Menkes Syndrome. He and his wife Phyllis have two healthy daughters.  The chance that a son of theirs inherits Menkes Syndrome is None, if he had the disease he would be dead.

4. The characteristic hair of Menkes syndrome results from the inability of hair keratin to form disulfide (sulfur-sulfur) bridges. The two amino acids most likely to be affected are adenosine triphosphatase and tyrosinase.

5. The phenomenon responsible for the observation that Martha has some unusual hairs and some normal ones is one of X chromosomes contains the mutated gene locus , while the other does not.

6. An Australian physician, D. M. Danks, saw his first patient with Menkes syndrome at Johns Hopkins University in 1971. He noted the striking resemblance between the patient’s hair and that of sheep in his homeland that graze on copper-deficient soil. The sheep hair anomaly is a common symptom of Menkes Disease, which is also present in humans. 

Day 4: Treatment and Prognosis

Menkes syndrome is a lethal genetic disease. There is no available cure for the disease and all treatment can only help with symptoms. The only common treatment for this disease are intravenous copper injections, but these tend to have mixed results and are only effective if started very early. Most patients with Menkes die between 1 to 3 years of age. The only patients who survive Menkes are those whose genes mutated differently and while they still suffer the symptoms, they may continue to live with supplementary copper injections.

From this information we conclude that poor little Rick died a baby. The only positive news is that since he died, his parents probably won’t try to reproduce again and this affected bloodline will cease to exist. This is pure cruel Darwin’s survival of the fittest.

Day 3: Diagnosis

Our case was already diagnosed by a doctor but we believe it is important to know what symptoms a victim of Menkes has and how this disease can be diagnosed.

The following are common symptoms of Menkes patients:

•          Pudgy, rosy cheeks
•          Weak or lack of muscle tone
•          Kinky, metallic or colorless hair
•          Skeletal abnormalities, such as weak bones
•          Seizures
•          Mental deterioration
•          Irritability
•          Feeding difficulties
•          Low body temperature

Since this disease is so rare, it is implausible that the doctor will be able to diagnose the disease only by adding up the symptoms. There is no exact test to determine if you have Menkes but individual tests can be used to complement the diagnosis.

The most common tests being:

•          Serum Copper Level- Low levels of copper in blood may indicate this disease
•          X-Rays- To verify if boner structures are built correctly
•          Microscopic examination of structure, such as hair in the case of Rick
•          Genetic Testing- To see if ATP7A is mutated
•          Urine test – to detect abnormal levels of copper

Day 2: Research

Now that the disease has been identified, it is important to know what is Menkes disease and what is it doing to the newborn baby.

Menkes disease derives its name from its discoverer: John Hanks Menkes, who first noticed it in 1962. Menkes syndrome is a recessive genetic disorder that causes irregularities in the copper levels of the body leading to copper deficiency. This disease is caused by a mutation in the ATP7A gene located on chromosome Xq12-q13. This protein (ATP7A) is important

Because:

•          It absorbs copper from food in the small intestine
•          Provides necessary copper for enzymes in the Golgi Apparatus
•          Releases excess copper from the system in the cell membrane

Menkes is disease is cause by a mutation in the specific gene. A gene mutation is change in the arrangement or quantity of nitrogenous bases which constitute a gene. Menkes is almost always caused by a new type of mutation and there are over 150 identified mutations which cause the disease. These mutations create unwanted proteins that do not perform the vital tasks and may also cause severe abnormalities.

Menkes is an X-linked recessive gene disease. This means that the mutated gene is in the X chromosome. It is important to point out that since men have XY chromosomes and women have XX chromosomes, women are more likely to be carriers of the mutated gene, since they have double the chance to receive it while having double the chance to receive a normal gene in the other chromosome, and men are more likely fall victim to the disease since they only have one X chromosome.

Day 1: The Case

Martha and Eliot D. were two healthy adults in their early twenties who took their 2 month old son, Rick, to his first “well baby” check up. The doctors noticed something was wrong and the baby had the following

 Symptoms:

•          Rick has short white stubby hair
•         Child has barely grown
•         Child does not respond to his surroundings
•       Tests reveal brain degeneration
•        Artery abnormalities
•      Weak bones

The doctor took a different hair samples from Rick and sent them to John Hopkins University for microscopic analysis. The results show that his hairs are unusually twisted which confirms the doctor’s diagnosis of Menkes syndrome. Rick inherited this disease because his mother was a carrier of Menkes syndrome.

Introduction

Greetings, we are Juan Hernandez and Sebastian Rodriguez, 11^th grade students of Colegio San Ignacio
 de Loyola and this blog is an assignment from our Biology teacher Prof. Wilma Giol. Our goal is to present
 a case study in which the patient suffered from Menkes Disease and then offer additional information pertaining to this disease, especially the genetic aspects.