Glossary
Abortion - the deliberate termination of pregnancy, carried out through a number of varied procedures involving removing the fetus from the womb
Active Site - A region on an enzyme that binds to a protein or other substance during a reaction.
Alcohol-Related Birth Defects (ARBD): The Fetal Alcohol Study Group defined FAS in 1989, outlining the symptoms as: 1) prenatal/postnatal growth retardation (relating to low body weight/stunted height) 2) central nervous system retardation (including developmental, behavioral, intellectual) and 3) characteristic facial abnormalities.
Amniocentesis - A type of prenatal screening that involves sampling of amniotic fluid using a hollow needle inserted into the uterus to be tested for chromosomal and developmental abnormalities
Ashkenazi - A Jew of central or eastern European descent. More than 80 percent of Jews today are Ashkenazim; they preserve Palestinian rather than Babylonian Jewish traditions, and some still use Yiddish
Autosomal Recessive - A genetic condition that appears only in individuals who have received two copies of an autosomal gene, one copy from each parent. The gene is on an autosome, a nonsex chromosome. The parents are carriers who have only one copy of the gene and do not exhibit the trait because the gene is recessive to its normal counterpart gene.
Carriers - one who carries a recessive gene and thus does not express the recessive phenotype but can transmit it to offspring.
Chromosome - a strand of DNA with specific sequences of base pairs. The human genome consists of two copies of each of 23 unique chromosomes, one from the mother and one from the father
Cranial Neural Crest: is responsible for the full formation of the facial skeleton, is very easily stunted by ethanol
DNA - Nucleic acid that carries information about the production of particular proteins in the sequences of its nucleotide bases
Ethanol: produced when the pregnant mother metabolizes alcohol. Ethanol production leads to a decreased the number of neurons in the child’s brain, an abnormal location of the neurons, and malformation of the brain.
Fatty Acid Ethyl Esters (FAEE): non-oxidative ethanol metabolites that mediate alcohol-induced organ damage. They are consistent indicators of chronic alcoholics as opposed to casual drinkers
Fetal Alcohol Syndrome occurs when a woman consumes alcohol while pregnant with a child, who then inherits the irreversible lifelong condition in-utero.
Folding - the process whereby a protein molecule assumes its intricate three-dimensional shape
Gene Therapy - Gene therapy is used to restore a missing enzyme by introducing the correct genetic code in order to reinstate proper enzyme production. There are various ways for this correct code to be re-introduced. One of the most common ways is through the use of a viral vector. This non disease-causing virus is genetically altered in order to contain the missing portion of the genetic code and used as a means to reinstate the correct genetic information into the code. Doing so, the enzyme production can be rectified.
Genetic counseling - the giving of advice by a health professional to prospective parents about their chances of genetic disorders in a future child, as determined by genetic testing
Genetic testing - the sequencing of the parents’ DNA in order to discover genetic differences, anomalies, or mutations that may prove pathological
Hereditary - the transmission of genetic material from parents to offspring, dependent on the separation and combination of genes during the gestation process.
Heterozygous - having dissimilar alleles at corresponding chromosomal loci
Hexosaminidase A - The Hex A gene codes for the alpha subunit of the hexosaminidase A enzyme. This enzyme is necessary for breaking down GM2 gangliosides in nerve cells. A mutation in the coding for the alpha subunit of the Hex A impairs its function and leads to an accumulation of GM2, a toxin, which results in cell death
Hydrolytic - (hydrolysis) a chemical reaction in which water reacts with a compound to produce other compounds
Hydrolyze: To break down with water
Isoenzyme: Two or more enzymes with the same function but different structure
Infant Orthodontics - The use of dental plates to bring the sides of the upper gum closer together
Lip Taping - tape is placed across the upper lip to help bring the sides of the gum closer together and reduce the size of the cleft, making surgery easier. This is done while the baby is still young prior to surgery.
Lysosomes - An organelle in the cytoplasm of eukaryotic cells containing degradative enzymes enclosed in a membrane.
Neural tube: the beginning stage to an embryo’s nervous system, starting with the brain and spinal cord.
Pharmacological and Molecular Chaperone Therapy - Molecules with the ability to cross the blood brain barrier into the central nervous system. These chaperones attach to an inactive enzyme in order to make it take a correct functional shape. They only work with certain genetic mutations
Phospholipids - A lipid containing a phosphate group in its molecule, e.g., lecithin.
Presurgical nasal alveolar molding - a molding plate is placed in the baby’s mouth and each week the plate is adjusted to reshape the roof of the mouth and gums. When the gum line is close together, a nasal extension is added to raises the nose and nasal cartilages into place. Begins when the baby is two weeks old and can continue until six months of age.
Retina - Nervous tissue-containing light sensitive cells that transmits impulses to the vision centers of the brain
Stem Cell Research - Stem cells have three unique properties. Firstly, they are capable of dividing and renewing themselves for extended periods of time, they are unspecialized and due to this, they can create specialized cells. These unique properties enable their use in cell-based therapies where these genetically altered stem cells create the missing enzyme and deliver it to the brain or central nervous system.
Synthetase: occurs when an enzyme catalyzes the linkage of two molecules, using the energy derived from ATP. Ethanol and fatty acids undergo synthetase in fetal tissues.
Teratogen: a substance that can damage a developing fetus