Thursday, September 1, 2016

Key Terms- How do they relate to porphyria? Check the article at this link: http://www.encyclopedia.com/topic/Porphyrias.aspx

Key Terms- How do they relate to porphyria? Check the article at this link: http://www.encyclopedia.com/topic/Porphyrias.aspx
Terms:
Autosomal dominant —A pattern of inheritance in which only one of the two copies of an autosomal gene must be abnormal for a genetic condition or disease to occur. An autosomal gene is a gene that is located on one of the autosomes or non-sex chromosomes. A person with an autosomal dominant disorder has a 50 percent chance of passing it to each of their offspring.

Autosomal recessive —A pattern of inheritance in which both copies of an autosomal gene must be abnormal for a genetic condition or disease to occur. An autosomal gene is a gene that is located on one of the autosomes or non-sex chromosomes. When both parents have one abnormal copy of the same gene, they have a 25 percent chance with each pregnancy that their offspring will have the disorder.

Biosynthesis —The manufacture of materials in a biological system.

Bone marrow —The spongy tissue inside the large bones in the body that is responsible for making the red blood cells, most white blood cells, and platelets.

Chromosome —A microscopic thread-like structure found within each cell of the human body and consisting of a complex of proteins and DNA. Humans have 46 chromosomes arranged into 23 pairs. Chromosomes contain the genetic information necessary to direct the development and functioning of all cells and systems in the body. They pass on hereditary traits from parents to child (like eye color) and determine whether the child will be male or female.

Enzyme —A protein that catalyzes a biochemical reaction without changing its own structure or function.

Erythropoiesis —The process through which new red blood cells are created; it begins in the bone marrow.

Erythropoietic —Referring to the creation of new red blood cells.

Gene —A building block of inheritance, which contains the instructions for the production of a particular protein, and is made up of a molecular sequence found on a section of DNA. Each gene is found on a precise location on a chromosome.

Hematin —A drug administered intravenously to halt an acute porphyria attack. It causes heme biosynthesis to decrease, preventing the further accumulation of heme precursors.

Heme —The iron-containing molecule in hemoglobin that serves as the site for oxygen binding.

Hemoglobin —An iron-containing pigment of red blood cells composed of four amino acid chains (alpha, beta, gamma, delta) that delivers oxygen from the lungs to the cells of the body and carries carbon dioxide from the cells to the lungs.

Hepatic —Refers to the liver.

Neuropathy —A disease or abnormality of the peripheral nerves (the nerves outside the brain and spinal cord). Major symptoms include weakness, numbness, paralysis, or pain in the affected area.

Porphyrin —An organic compound found in living things that founds the foundation structure for hemoglobin, chlorophyll, and other respiratory pigments. In humans, porphyrins combine with iron to form hemes.

Protoporphyrin —A kind of porphyrin that links with iron to form the heme of hemoglobin

                              "Remember....Research is the key to your cure!"

No comments:

Post a Comment

Organizations around the world unite for Porphyria links

The following organizations have websites in English The American Porphyria Foundation has a very extensive website, including a section ...