Gaucher+2

> beginning in infancy (usually will not > live beyond 2 years old) > ||< * Affects the nervous system **Another recently recognized type of Gaucher Disease is called "Prenatal Lethal", in which the fetus does not make it to birth (1) Photograph above shows the different types or severities of the disease. Besides varying types of disease, other factors that alter phenotype include:
 * Different Types **
 * < TYPE I ||< TYPE II ||< TYPE III ||
 * < * Most common
 * Does NOT affect the nervous system
 * Mild
 * Can appear early or in adulthood
 * Caused by homozygous or compound heterozygous
 * mutation in the gene encoding acid beta- glucosidase ||< * Known as the worst type to have
 * Affects the nervous system
 * Skin problems
 * Causes serious medical problems
 * Progresses much slower then type II
 * Usually, diagnosed later in life ||
 * Point mutations- depending on which nucleotide is changed, there can be a enzyme with abnormal function, or a stop codon that prevents the enzyme to be transcribed
 * Complex alleles - //Rec Nci I // was discovered to be the most prevalent GBA complex allele among population (3)
 * Alternate substrates- the syphinogosine alternate substrate functions can also affect production of the enzyme
 * Contiguous genes- a deletion of multiple gene loci that are adjacent to one another
 * Environmental factors - how/where individual is raised can alter appearance
 * Genetic Modifiers such as: metabolic pathway genes, post transcriptional processing, chaperones, protein trafficking and proteosome function (1)

<< What is the GBA gene? or Phylogenetic Tree>> Home