Menke's syndrome

The gene name: ATPase, Cu2+ transporting, alphapolypeptides [Homo sapiens]

The gene ID: 538

This gene encodes a protein which functions in copper transport across membranes where eventually mutations of this particular gene result in the Purkinje cell dendrites of the brain & Menke's syndrome results.

Menke's syndrome is an inborn error of "Metabolism", & it decreases the cell's ability to absorb Cu.

This causes severe cerebral degeneration and arterial changes-resulting in death in infants. Interestingly enough, the disease can be diagnosed as easily as by merely gazing upon a Menke's syndrome victim's scalp/head of hair-which appears to be whitish as well as kinked under a microscope.

This syndrome is transmitted as an X-linked recessive trait. If administered within the first months of life, Cu histidinate is sometimes effective in increasing the life expectancy from three to 13 yrs. of age. This treatment has been very helpful with mice-giving scientists a model organism for gathering insight in how to better help human beings, and their struggle for copper transport mechanisms.

Prader-Willi syndrome

Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. People with Prader-Willi syndrome typically have mental retardation or learning disabilities and behavioral problems. Some people with prader-willi syndrome have an insatiable appetite which lead to obesity.

Gene name is Prader-Willi syndrome chromosome region (homo sapiens) PWRC, and Gene ID is 6638.

The protein plays a role in a pre-MRNA processing, possibly tissue specific alternative splicing events. The protein arises from a bicistronic transcript that also encodes a protein identified as the small nuclear ribonucleoprotein (SNRPN) upstream reading frame (SNURF).

Niemann-Pick type C disease

NPC1 gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.

Usually, cellular cholesterol is imported into lysosomes—'bags of enzymes' in the cell—for processing, after which it is released. Cells taken from NP-C patients have been shown to be defective in releasing cholesterol from lysosomes. This leads to an excessive build-up of cholesterol inside lysosomes, causing processing errors. NPC1 was found to have known sterol-sensing regions similar to those in other proteins, which suggests it plays a role in regulating cholesterol traffic.

Hereditary Hemochromotosis

Hereditary hemochromotosis is a disorder that increases the amount of iron that the body absorbs. The normal function of the protein associated with this disease is thought to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin.
Gene name: HFE
Gene number: 3077

Lesch-Nyhan Syndrome

Lesch-Nyhan Syndrome is caused by an inherited mutation of the HPRT1 gene on the X-chromosome. Males tend to suffer more from this mutation because they only have one X-chromosome, whereas females have two. Mutations can cause excessive uritic acid accumulation, which can lead to gout and urate stones. Individuals may also have to refrain from biting their fingers and tongues. Mental retardation and sever muscle weakness can occur as well.

Gene Name: HPRT1; Hypoxanthine Phosphoribosyltransferase 1
Gene ID: 3251

The normal gene produces hypoxanthine-guanine phosphoribosyltransferase, an enzyme that speeds up the recycling of purines from broken down DNA and RNA.

Tay-Sachs Disease

Tay-Sachs disease is a inherited condition. Neurogenerative disorder of lipid metabolism. Caused by deficiency of Hexosaminidase A. Generally effects children who will often experience seizures, muscle stiffness, become blind, uncordinated, develop dementhia, and usually die before age four or five.

Gene name is: Hexa
Hexosaminidase A
Gen ID 3073

Abnormal function of enzyme beta-hexosaminidase A. This enzyme normally breaks down a membrane glycolipid called ganglio side GM2. As the excess ganglio side GM2 accumulates, the nerve cells function becomes less efficient.

Diabetes affects our bodies ability to regulate blood glucose levels because of either the inability to make or use insulin. This can result in heart disease, blindness, kidney failure and nuralogical disorders.

"1) a gene at the locus IDDM2 on chromosome 11 and 2) the gene for glucokinase (GCK), an enzyme that is key to glucose metabolism which helps modulate insulin secretion, on chromosome 7."

Adrenoleukodystrophy

Adrenoleukodystrophy is a rare inherited diseases associated with metabolic disorders which accompanied by extensive demyelination dysfunction of the adrenal glands. Thus, the brain accumulates more fat, which over time damage the sheath that protects nerve fibers. The development of the disease begin to torment cramps and developed loss of vision. A few months starting palsy, develops deafness and then the person dies.

The full name of the gene associated with adrenoleukodystrophy:

ATP-binding cassette, sub-family D (ALD), member 1

GeneID: 215

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes.

© http://www.ncbi.nlm.nih.gov/gene/215

Refsum Disease

Refsum disease is also known as a rare disorder of lipid metabolism because it is inherited as a recessive trait. Such disease affects human health by causing peripheral neuropathy, lack of muscle coordination, retinitis pigmentosa, and bone and skin changes.
The gene name for Refsum disease is phytanoyl-CoA 2-hydroxylase. The Gene ID associated with this disease is 5264.
This gene encodes a peroxisomal protein, which is involved in alpha-oxidation of 3-methyl branched fatty acids. Mutations in this gene have shown to be associated with Refsum disease.

Porphyria is a diverse group of diseases in which production of heme is disrupted. Heme is composed of porphyrin, a large circular molecule made from four rings linked together with an iron atom at its center. When heme productionis faulty, porphyrins are overproducedand lend a reddish-purple color to urine.

The full name of the gene associated with Porphyria is PORC Crester type [Homo Sapiens], gene ID # 5448.

Heme synthesis takes place in several steps, each of which requires a specific enzyme of which there are 8 in total. The genes that encode these enzymes located in different chromosomes and mutation of these genes can be inherited in either an autosomal dominant or autosomal recessive fasion. Affected idividuals are unable to complete heme synthesis, porphyrin or its precursors, accumulate.

Maple Syrup Urine Disease (MSUD) is an inherited disorder. This disease affects the metabolism of certain amino acids. Because they cannot be fully broken down, they accumulate in the urine. In severe form this disease can cause brain damage and leads to death.

Its gene name is BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide and the gene ID number is 593.

This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutataions in this gene result in maple syrup unrine disease.

Pancreatic Cancer

The job of the pancreas is to produce insulin which is a hormone, it also produces other substances. It also has a big part in the digestion of proteins. Cancer of the pancreas makes it not function properly, enabling it to produce sufficent amounts of the substances and hormone.

The full name of the gene associated with pancreatic cancer is Smad family member 4. The gene ID is 4089.


The gene encodes a member of the Smad Family which signals transduction proteins. Mutations or deletions in this gene have been shown to result in pancreatic cancer.

Cystic Fibrosis

1. Cystic Fibrosis causes the body to produce a thick, sticky mucus that clogs the lungs and leads to infection, and blocks the pancreas from doing what it needs to. This process stops digestive enzymes from reaching the intestines where they are required to digest food.

2. The full name of Cystic Fibrosis is: cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) and the Gene ID is 1080.

3. The encoded protein functions as a chloride channel and controls the regulation of other transport pathways.

Obesity Disease

1. Obesity is an excess of body fat; doctors generally agree that men with more than 25% body fat and women with more than 30% are obese. Obesity is a known risk factor for chronic diseases including heart disease, diabetes, high blood pressure, stroke and some forms of cancer.
2. Gene Name: Leptin, GeneID: 3952, also known as OB; OBS; FLJ94114; LEP
3. This gene encodes a protein that is secreted by white adipocytes, and which plays a major role is the regulation of body weight. This protein, which acts through the leptin receptor, functions as part of a signaling pathway that can inhibit food intake and/or regulate energy expenditure to maintain constancy of the adipose mass.

Gaucher's Disease

Gaucher's disease is a hereditary deficiency of an enzyme called glucocerebrosidase, - an enzyme needed by the body to break down a certain type of fatty substance in our body. Once the enzyme becomes inactive, the fat accumulates mostly in the spleen, liver, and bone marrow which can lead to fatigue, liver malfunction, skeletal disorders, or even death.

Its gene name is GBA and GeneID:2629

Glucocerebrosidase normal function in the body is to be able to break down a type of fat called glucocerebroside.

Tangier Disease

Tangier Disease or TD is a genetic disorder of cholesterol transport. Tangier disease is named after the island of Tangier located off the coast of Virginia. TD was first discovered on a five year old who was an inhabitant of the Tangier island. The five year old had orange tonsils and very low levels of HDL, and an enlarged liver and spleen. TD is caused by mutations in the ABC1 (ATP-binding cassette) gene on chromosome 9q31. People diagnosed with TD are not able to eliminate cholesterol from cells, which then causes the cholesterol to buildup in the tonsils and other organs.

The gene name for Tangier Disease is ABCA1 and the gene ID is 19.

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes.

Glucose Galactose Malabsorptions

1.Glucose Galactose Malabsorptions is a rare metabolic disease. This disease is associated with nonfunctioning or malfunctioning of SGLT1 gene which causes accumulation of glucose and galactose in the intestinal lumen which leads to diarrhea and possible death if diete is not changed.

2. Gene's name: SGLT1, Gene ID: 723986

3.SGLT1 gene is located on chromosome 22 and its function is to move glucose and the galactose, the products of lactose, from the lumen of the small intestine into intestinal cells.

Zellweger syndrome

Zellweger is a genetic hereditory disease affecting infants. Some of the signs are enlarged liver, high iron level in blood, affected vision, among others. Infants with Zellweger are said to have poor muscle tone, sometimes to the point of immobility.

There are at least 12 genes that are said to individually beresponsible for Zellweger syndrome. One of them is the homosapien peroxisomal biogenesis factor (PEX1) on chromosome 7. Its Gene ID is 5189.

The responsible genes code for the assembly for peroxisomes. The mutation in the genes results the absence of the peroxisomes. PEX1 gene encodes for a member of the AAA ATPase family that's associated with various cellular functions. The encoded protein belongs in the cytoplasm, but is often anchored to the peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisomal biogenesis.

Wilson's Disease: Bio 440 (Ken Kubo)

Wilson disease occurs when your body retains copper. Wilson disease is a rare and inherited disorder. Our liver would normally release any copper that it does not need into bile. When a person has Wilson disease this does not happen. Copper will build up in your liver and injures liver tissue. The damage causes your liver to release the copper directly into your bloodstream. Then the blood carries copper all over your body. Too much copper can damage your kidneys, liver, brain and eyes.

The gene for Wilson's disease (ATP7B) is mapped to chromosome 13. The GeneID is 540.

The gene is associated with the P-type cation transport ATPase family and encodes a protein with membrane-spanning domains. The protein works by exporting copper out of the cells.

Phenylketonuria (PKU)

Phenylketonuria (PKU) is a rare inherited metabolic disorder caused by an insufficient amount of the enzyme phenylalanine hydroxylase. Furthermore, a lack of this enzyme can produce mental retardation, organ impairment, abnormal posture, and if a woman is pregnant, the pregnancy is considered high risk.

PKU's gene name is Phenylanlanine hydroxylase (PAH), and the Gene ID number is 5053.

Phenylalanine is an essential amino acid, and the body must get them from food to build the proteins that make up the tissues and keep them working. Thus, phenylalanine is required for normal development.