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Shows a symptom of a infant with congenital heart disease.

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Normal vs. Disruption of signa

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pic of person with norrie disease - Google Search

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William T.
Alopecia is a disease that may be caused by genetics or environmental factors like age or malnutrition. It causes loss of hair or severe thinning generally on the scalp, but it can be present anywhere on the body. This disease is present in men as the common male pattern baldness, and in women as female pattern baldness. Alopecia is caused by a malfunction within the Androgen Receptor Pathway. In a correct functioning of the pathway the amount of androgens (sex hormones such as testosterone which among other things are responsible for hair growth) that must be dealt with in a hair follicle are at a normal level. In the incorrect functioning of the pathway in Alopecia there is a much higher volume of androgens or a greater quantity of stronger androgens (5a-dihydrotesterone) which causes the follicle to shorten the lifespan of a hair drastically. There may also be a much lower quantity of androgens, or hormonal enzymes like 5a-reductase (responsible for 5a-dihydrotestosterone production) which doesn't allow for the hair to be grown effectively. Both cases can lead to thinning or complete loss of hair. It is not known with complete certainty which genes are responsible for this disease when caused by genetics but there are a few suspected ones.
Diagram of the Androgen pathway: https://encrypted-tbn3.gstatic.com/images?q=tbn:ANd9GcS5eB8-B55WYEeYy4eZPBSnnfkyx4CxaZfFNGEkwqjuNi2n3FBZ
Chromosomes with suspected genes involved:http://1.bp.blogspot.com/_RLwsyhJ_-SA/S-qMcZDjNuI/AAAAAAAAAzc/7Br8QPU6B2w/s1600/gene.jpg
A man with Alopecia: https://upload.wikimedia.org/wikipedia/commons/d/d2/Alopecia.jpg
Sources
-https://www.aad.org/public/diseases/hair-and-scalp-problems/alopecia-areata#causes
-http://www.springer.com/cda/content/document/cda_downloaddocument/9783642026355-c1.pdf?SGWID=0-0-45-1111584-p173925310
-https://ghr.nlm.nih.gov/condition/androgenetic-alopecia#

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Parkinson's disease and Calcium Channels

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Parkinson's disease and Calcium Channels

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The exact cause of Parkinson's disease has yet to be discovered but the cause of the symptoms are known, the loss of dopaminergic cells that is responsible for releasing dopamine, in a part of the brain that releases signals for some of the bodily functions. When these cells are not release it cause symptoms such as loss of muscle function, tremors, posture instability, dementia, slurred speech and ridgity of muscles. Normally the neurotransmitter dopamine is released in the presynapic neuron which is signaled through D1 and D2 dopamine receptors, D1 receptor signals using protein but the D2 receptor stops the process causing malfunction with the signaling.
The correct mechanism is Glutamate binds to to the NMDA Receptor or AMPA Receptor , this then triggers GTP to displace GDP and bind to the alpha subunit of the G-protein then and then isolate the alpha sub unit from the beta and gamma sub unit, Then the alpha subunit binds to the calcium channel and triggers it to open, and lastly calcium ions flow into the cell then bind to the with.
The incorrect mechanism is NMDA or Kainic acid bind to the NMDA  or AMPA receptor causes an influx of calcium ions into the cell, this influx activates enzymes such as phospholipases, endonucleases, proteases, such as kalplain, the these enzymes work to destroy organelles, and then thisresults as the decrease of dopamine cells.

Work Cited
https://www.cellsignal.com/contents/science-pathway-research-neuroscience/dopamine-signaling-in-parkinson-s-disease-pathway/pathways-park

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Most of the time you think of Items being  pasted down through generations not really diseases, this is not the case .This disease called Cystic Fibrosis is a disease that is passed down through generations . This disease is also inherited . What is Cystic Fibrosis ? Cystic Fibrosis is a disease that causes your abnormal thick mucus which happens to block the pancreatic ducts and also your intestines . Cystic Fibrosis was discover in 1938 by Dr. Dorthy Andersen She begin to call the disease ¨ Cystic Fibrosis Of The Pancreas ¨   . Cystic Fibrosis can have multiple amounts of symptom some of these symptoms are ;
very salty - tasting skin , wheezing or shortness of breath , poor growth or weight gain in spite of a good appetite , it also has a big affect on the lung and the pancreas . The correct mechanism is to bind CFTR proteins and mutation . The incorrect mechanism F508 which occursin transcription deletes one amino acid

Work Cited ; https://www.cff.org/What-is-CF/About-Cystic-Fibrosis/
https://www.nhlbi.nih.gov/health/health-topics/topics/cf

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By Lizeth A

Cockayne Syndrome is a rare disease caused by mutations, with still unknown causes, in the genes ERCC8 ( CSA) or ERCC6 ( CSB). These genes are responsible for the making of proteins and the repair of DNA, with this disease the repair of DNA is not fixed well and it leads to the DNA becoming mutated.

How the pathway is disrupted

This disease is passed on Autosomal Recessive inheritance, meaning you get it from both parents. Here is a visual of how Autosomal Recessive Inheritance works.

This disease is separated into three types; type 1 being normal with a life expectancy of 10 to 20 years , type 2 being the most severe form and having a life expectancy of 2 to 6 years, finally type 3 is the milder form of this disease and the life expectancy is 40 to 50 years. Common symptoms of this disease are shortness, abnormal head shapes, sensitivity of the sun, hearing loss, premature aging, bone and tooth decay, difficulty learning, and many more. Another issue people with this disease suffer from is that they cannot take antibiotics as it causes sever liver failure. While there is no treatment for this disease therapy can be done and the use of sunscreen can help with the sun sensitivity.

Citation:

Information:

https://rarediseases.info.nih.gov/diseases/6122/cockayne-syndrome

https://ghr.nlm.nih.gov/condition/cockayne-syndrome#diagnosis

http://emedicine.medscape.com/article/942516-treatment

Pictures:

http://linoit.com/users/15asandoz/canvases/Cockayne%20Syndrome%20(2)

https://www.ukessays.com/essays/health-and-social-care/the-amelogenesis-imperfecta-health-and-social-care-essay.php

https://www.emaze.com/@AFZQZLTO/Cockayne-Syndrome

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K-Ras is a protein that is supposed to let the receptors know when to open the channel and when to stop. This lets in the nutrients to help the cell grow. But when a mutation happens so that the protein doesn't properly work it only tells the receptor to open the receptor and ignores the fact that its being told to stop because the cell is growing to big or supposed to die. Scientist don't know what triggers the mutation but some of the risk factors are:
-tabcco  use
-overweight or obesity
-workplace expose to certain chemicals (dry cleaning and metal  working).
-age (over 41 mostly at 70)
-gender (men are more likely to get this cancer)
-race (African American are more likely to get this cancer)
-inherited genetic syndromes (mutations in DNA)
There have been certain treatments to Pancreatic cancer but the doctor you have sets the treatment based off of which stage you are in. Some of the symptoms of pancreatic cancer are like when you have a cold others are more serious. These symptoms include:
-dark urine
-light colored or greasy stools
-itchy skin
-belly or back pain
-weight loss
-loss of appetite
-nausea
-blood clots
-diabetes
-gallbladder or liver enlargement
-fatty tissue abnormalities
This is a link to a video about Kerry Harvey who had pancreatic cancer back in 2013-2014 and it explains why she said "I wish I had breast cancer". Sadly she died when she was only 24 and a year after she was diagnosed.
https://www.youtube.com/watch?v=lomNCfQ27mY
Work Cited
*http://www.cancer.org/cancer/pancreaticcancer
*https://www.pancan.org/research/strategic-research-program/learn/cell-signaling/

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By: Alyson H
Neurofibromatosis is a disorder that comes from genetic line of information in a family; it can also happen from a random mutation. The gene for NF1, type one neurofibromatosis, can be found on the 17th chromosome, which regulates the growth of the cells. What the gene does it causes a loss of neurofibromin, the protein that regulates the growth of the cells, making the cells in the body grow at uncontrollable rates.
NF2, which is neuroribromatosis type 2, is a gene that occurs on the 22nd chromosome. The 22nd chromosome helps to make the protein called merlin, merlin helps with cell growth. The input of the mutated gene makes the growth of cells uncontrollable like the gene and chromosome 17. These irregulated growing rates of the cells makes it so that there can be many problems, and neurofibromatosis deals with there being tumors on the nerve tissue.

(Picture shows the chromosomes with the mutated genes.)

The picture above shows a girl named Sarah that has the said disease, being diagnosed at the age of eight months. If you want to read an article on her then just follow the link:

http://www.dailymail.co.uk/femail/article-2526058/Sarah-Atwell-suffers-neurofibromatosis-stands-cruel-bullies.html

(From the Mayo Clinic) The symptoms of neurofibromatosis are:

NF1

Cafe-au-lait spots: These spots are random light brown spots that occur on the body, they are a strong indication of NF1.

Freckling: Freckles start to appear on the body at ages of 3 to 5 and are smaller than Cafe-au-lait spots.

Lisch nodules: Tiny bumps that occur in the iris, harmless, and do not affect the vision of the eyes.

Neurofibromas: Small bumps on/under the skin, and is a benign tumor that can grown under the skin including multiple nerves if it wanted.

Bone Deformities: The occurance of poor bone growth, or a deficiency of bone material. Can cause scoliosis and a bowed lower leg.

Optic Glioma: A tumor that occurs to the optic nerve, showing p at the age of 3, rarely in late childhood and adolescence, and never in adulthood.

Learning disabilities: There are learning disabilities that are gained from this disease, one being ADHD, and then the others being common disability to learn or be able to do a certain subject or take standardized tests.

Larger head size: The size of the head can be larger than a head normally should be, this being due to the increase of their brain.

Shorter than average: Children with the disease tend to have a short stature.

NF2

Usually showing up in late teens and early adult ages, and there are acoustic neuromas, tumors that grow on the nerve that carries sond and takes care of blance

Gradual hearing loss

Ringing in ears

Poor balance

Headaches

Schwannomas, or the tumor of the nerve, can grow in different parts of the body; includes the cranial, spinal, optic and peripheral nerves, due to NF2.

Arms and legs feel numb or are weak

Pain

Hard to keep balance

Facial drop

Problems with vision, or cataracts form.

The picture at the top, or the very bottom however you are looking at this, is the way the disease works, and the link below has the explanation to it, and the picture to look at:

http://www.jci.org/articles/view/20503/figure/1

Work Cited
http://www.ninds.nih.gov/disorders/neurofibromatosis/detail_neurofibromatosis.htm
http://www.mayoclinic.org/diseases-conditions/neurofibromatosis/symptoms-causes/dxc-20167896

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Werner's syndrome is rare and inherited by both parents of the child, this disorder occurs due to the mutation of WRN. This gene is responsible in the production of the protein werner. The protein werner is used for the repairing of DNA. Though with WRN mutated the proteins production is in small amounts. That production then is too small which doesn't let it go through the nucleus of a cell. Since it can't reach the DNA inside the nucleus all the DNA that's damaged can not be repaired. Today in the modern world scientist still have not been able to figure out specifically why it causes the symptoms this disorder come with. Some of those symptoms are premature aging, graying, hair loss, and a short stature as it is common for people with this syndrome to have a short stature. Cataracts is also a possible symptom just as diabetes, osteoporosis, and cancer. In the picture above we can notice how this girl at fifteen appears to look like an regular young teen but we can see that at the age of 48 she has now diminished into a look of an older woman that appears to age 60 or older when she is just 48.Werner syndrome is a autosomal recessive trait. Here both parents have to hold the recessive disorder for its offspring to have this syndrome. The mutations of WRN take place in the short arm of chromosome 8.

Citations
https://rarediseases.org/rare-diseases/werner-syndrome/
http://www.cancer.net/cancer-types/werner-syndrome
https://ghr.nlm.nih.gov/condition/werner-syndrome#inheritance
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC153784/

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What is Alzheimer's Disease? Alzheimer's is a type of dementia that causes problems with memory, thinking and behavior. Alzheimer's disease accounts for 60 to 80 percent of dementia cases therefore being the most common form of dementia. Symptoms of Alzheimer's include memory loss, disorientation, mood/behavior changes, confusion, and difficulty speaking, swallowing and walking. What is the correct mechanism and the incorrect mechanism involving Alzheimer's? Normally the G Protein Receptor waits for a ligand to connect and activate it which causes the signal to be amplified through the cell to the target. The difference with Alzheimer's is the ligand deteriorates before it can reach the G Protein. Alzheimer's is not caused by just one factor it is caused by many. It is caused by mutations of chromosomes 21, 14, 1, and 19. Most people develop Alzheimer’s at an older age and have a family history of Alzheimer’s with the APOE-e4 gene. As scientists discover more risk factors it will help deepen their understanding why some people get Alzheimer's and not others. There is no cure for Alzheimer's disease today.

Plaques (deposits of a protein fragment called beta-amyloid that build up in the spaces between nerve cells) and tangles (twisted fibers of another protein called tau that build up inside cells) tend to spread through the cortex as Alzheimer's progresses.

Work Cited
- http://www.alz.org/alzheimers_disease_what_is_alzheimers.asp
- http://www.alz.org/research/
- https://prezi.com/7icwbrfhf60b/cell-signaling-and-disease-project-alzheimers-disease/

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The Norrie Disease is a disease that can happen to anyone. It causes the retina in the eye to become undeveloped. The NDP gene makes the norrin protein. The norrin protein binds to the frizzled 4 receptor and when this happens, the Beta-catenin pathway is activated. When the NDP gene is defective, it transports the defectiveness to the norrin protein causing it to be unable to bind to the frizzled-4 receptor, therefore the pathway does not get activated.
Symptoms

Unclear vision

Loss of hearing

Intellectual disabilities.

Works Cited
http://www.retinalphysician.com/articleviewer.aspx?articleID=105549
https://ghr.nlm.nih.gov/gene/NDP
https://prezi.com/p9x5fdxr7nhy/norrie-disease/

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Causes: Disruption of the heart development.Some common things that they identify is that it is a birth defect ,which may resort from a mutation in the genes for example down syndrome. Specific medicine , use of drugs and alcohol during pregnancy, as well as viral infection in the early month of pregnancy.

Symptoms: Shortness of breath

Causes problems with exercise

Infants

Cyanosis

Poor feeding

hyper-Breathing

Lung infection

Cell Signaling Pathway: Planar Cell Polarity is responsible for very important mechanism for example organ formation.
Incorrect formation of the proteins causes a hole in the heart
Correct formations of the proteins and its expression results in corecct formation of the heart.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3205795/
https://www.ncbi.nlm.nih.gov/pubmed/20651295
http://www.webmd.com/heart-disease/congenital-heart-disease#1

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Asthma is a respiratory illness that is caused by the excess production of mucus in the airway and swelling of the bronchioles. It is a very common disease all over the world. The severity of asthma attacks vary. An asthma attack could be just a small cough, or life threatening. Inhalers (albuterol) most of the time can save someone if they are having an asthma attack. Asthma triggers include:

Allergens

Airborne irritants

Respiratory infections

Exercise

Weather

Medications

Expressing strong emotions

Usually, when you inhale irritants, your airways open up to let them out. If you have asthma, your airways narrow instead. Symptoms of asthma include:

Wheezing

Shortness of breath

Cough

Chest tightness or pain

Rapid heart rate

Sweating

The signal transduction pathway affects asthma because of the chemical Interleukin-17 (IL-17). These are produced by Type 2 Helper cells.  This chemical causes the bronchioles to swell and produce mucus. It has to deal with the signal transduction pathway because the helper cells create a hazardous chemical and it is delivered straight to the bronchial tubes. This what asthma looks like: This is the chromosome that affects asthma
Resources:
-https://www.ncbi.nlm.nih.gov/pubmed/20921287
-https://prezi.com/24bgnspai2qq/asthma-allergies/
-http://www.mayoclinic.org/diseases-conditions/asthma/basics/definition/con-20026992

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The release of insulin into the blood stream promotes the absorption of sugar into your body's cell. The cell's resistance to insulin or the inability of the beta cells to produce insulin within the pancreas can result in high levels of blood sugar. Symptoms include:

Low levels of energy

Increased need to urinate

blurred vision

Slow healing of wounds

Nerve damage

The beta cells can be damaged or destroyed through apoptosis. Increased signals that induce apoptosis, such as the activation of protein kinases and mitochondrial death signals, can be accounted for this tragedy. The death of many beta cells then affects the way insulin is distributed throughout the blood stream. People can also be born with an insulin resistance, meaning the cell is resistant to the intake of insulin leading to the over production of insulin to compensate, which can cause problems. This is the correct transduction pathway for insulin intake. With insulin resistant cells, the alpha helix does not allow for insulin to bond and stops the spread of the signal.
People with insulin resistance or diabetes need to regularly monitor their blood sugar levels and take insulin pills or injections to help.

Sources:
-http://www.endocrineweb.com/conditions/type-1-diabetes/what-insulin
-https://www.ncbi.nlm.nih.gov/pmc/articles/PMC314316/
-http://diabetes.diabetesjournals.org/content/54/suppl_2/S97
-http://bitesizebio.com/20969/apoptosis-gone-wrong-cell-deaths-role-in-disease/
-http://www.news-medical.net/health/Causes-of-Insulin-Resistance.aspx
-https://www.diabetesresearch.org/cure-research
Pictures:
-https://www.google.com/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwi9quLKo_zPAhXKMj4KHcgqCQgQjRwIBw&url=http%3A%2F%2Fwormholeriders.org%2Fyoudecide%2F%3Fp%3D1996&psig=AFQjCNEKPgbqWksGt9M7G_eegiLbDvZrZA&ust=1477702137189307
-https://www.google.com/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwjomfCntobQAhWf3oMKHUE4DLkQjRwIBw&url=http%3A%2F%2Fwww.drweil.com%2Fhealth-wellness%2Fbody-mind-spirit%2Fdiabetes%2Finsulin-resistance%2F&psig=AFQjCNEOZAcCZExD01vXwulnjvPZKOIglg&ust=1478050349121639
-https://www.google.com/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwjyh5bAtobQAhXBzIMKHS4xCmUQjRwIBw&url=https%3A%2F%2Fen.wikipedia.org%2Fwiki%2FInsulin_signal_transduction_pathway&psig=AFQjCNHSGWki3r-S5Ka6sLY-QwWXt33deg&ust=1478050812727292

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A kidney disease is when the kidneys are damaged and can't filter blood  like they should. The main risk factors for developing kidney disease are Diabetes, High blood pressure, Cardiovascular disease, or a family history of kidney failure. Kidney disease is a growing problem, and for most people, a diseased kidney occurs slowly over many years. Early kidney disease has no signs or symptoms, there's a chance you won't tell a difference until the disease gets more advanced. Urine and blood tests are the only way for you to know if you have a kidney disease. Some symptoms of this disease are reduced amount of urine, shortness of breathe, nausea, and swelling of your legs, feet, and ankles.
The cell signaling pathway involved is signal transduction pathway. (http://www.wiley.com/college/boyer/0470003790/animations/signal_transduction/signal_transduction.htm )
The correct mechanism of a kidney is:
Kidneys have millions of units called nephrons that have a glomerulus attached to a tubule. The blood is sifted into these blood vessels while extra fluid passes to the tubule, then chemicals and water are filtered from fluid.
The incorrect mechanism of a kidney is:
The PC1 and PC2 decreases the size of the cell, cell growth, and cell division.
Works Cited:
* https://www.niddk.nih.gov/health-information/health-communication-programs/nkdep/learn/causes-kidney-disease/kidney-disease-basics/Pages/kidney-disease-basics.aspx
*http://www.healthline.com/health/kidney-failure

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Tuberous Sclerosis is a genetic disorder that occurs in all races and in both males and females. Tuberous Sclerosis causes noncancerous tumors to form in different organs throughout the body but mainly in the brain, heart, eyes, lungs, skin, and kidneys affecting the central nervous system. Tuberous Sclerosis can be inherited from a parent but in most cases its occurs when a mutation occurs in the TSC1 or TSC2 genes, only one gene has to have the mutation for tuberous sclerosis to occur.  Very rarely tuberous sclerosis can occur from gonadal mosaicism, which is when both parents do not have the gene but one parents reproductive cells has a portion of the mutated disease. Symptoms begin to occur in the early child hood stages. These symptoms include places of the skin that are lighter or where the skin is raised and is thicker, growth happening under the nails, tumors on the face(Facial angiofibromas), cardiac rhabdomyoma which is when the heart muscle has an abnormal growth. Tuberous Sclerosis causes development problems such as seizures, problems when it comes to learning, hyper activity, aggression and autistic like behavior.  Serious tumors can affect the brain, the heart, and the kidney.
Tuberous Sclerosis occurs when when a mutation occurs in the genes TSC1 or TSC2. TSC1 produces hamartin, a protein, on chromosome 9. TSC2 produces tuberin, a protein, on chromosme 16. These protein regulate mTOR but is affected when its lacking either protein causing enlarged cells to form and development to be affected.

Work citation:
Information found at-
http://www.ninds.nih.gov/disorders/tuberous_sclerosis/detail_tuberous_sclerosis.htm
https://rarediseases.info.nih.gov/diseases/7830/tuberous-sclerosis
http://www.tsalliance.org/pages.aspx?content=2

Image found at-
http://disorders.eyes.arizona.edu/disorders/tuberous-sclerosis-1