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Alpha 1-antitrypsin deficiency
Autism and Aspergers Syndrome
Benign Infantile Epilepsy
Cri du chat
Duchenne Muscular Dystrophy
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Nature of the Genetic Difficulty
Is there a point mutation, or any insertion/deletion entirely inside one gene? Is there a (gene or genes) missing? A whole chromosone extra, missing, or both? Or might the gene be extended in length?
What is the normal function of the PSEN2 gene? The PSEN2 gene provides instructions for making a protein called presenilin 2. Presenilin 2 helps process proteins that transmit chemical signals from the cell membrane into the nucleus. Once in the nucleus, these signals turn on (activate) genes that are important for cell growth and maturation.
Presenilin 2 is best known for its role in processing amyloid precursor protein, which is found in the brain and other tissues. Research suggests that presenilin 2 works together with other enzymes to cut amyloid precursor protein into smaller segments (peptides). One of these peptides is called soluble amyloid precursor protein (sAPP), and another is called amyloid beta peptide. Recent evidence suggests that sAPP has growth-promoting properties and may play a role in the formation of neurons in the brain both before and after birth. Other functions of sAPP and amyloid beta peptide are under investigation.
Alzheimer disease - caused by mutations in the PSEN2 gene At least 11 mutations in the PSEN2 gene have been shown to cause early-onset Alzheimer disease. Mutations in this gene account for less than 5 percent of all early-onset cases of the disorder.
Two of the most common PSEN2 mutations that cause early-onset Alzheimer disease change single protein building blocks (amino acids) used to make presenilin 2. One mutation replaces the amino acid asparagine with the amino acid isoleucine at position 141 (written as Asn141Ile or N141I). The other mutation changes the amino acid methionine to the amino acid valine at position 239 (written as Met239Val or M239V). These mutations appear to disrupt the processing of amyloid precursor protein, leading to the overproduction of amyloid beta peptide. This protein fragment can build up in the brain and form clumps called amyloid plaques that are characteristic of Alzheimer disease. A buildup of toxic amyloid beta peptide and amyloid plaques may lead to the death of neurons and the progressive signs and symptoms of this disorder.
Basis Facts of Disease
serious memory loss, confusion and other major changes in the way our minds work
younger-onset refers to Alzheimer's that occurs in a person under age 65
There is no cure. You will slowly die as the brain matter is destoryed. There are several medications though that can help prolong the patients life and even slow the onset of the disease.
Doctor precride meds:
Cholinesterase- helps slow the breakdown of acetylcholine, mesanger for memory and leanring
Memantine- helps to regulate the activity of glutamate
Natural thought to help remedys:
Vitamin E- help protect the nerve cells
Omega-3 fatty acids
Any of the know pyscotropic drugs for treating mood swings, depression, and anger may be prescribed also
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