group 7 - α-galactosidase A (GLA) and Fabry Disease

characteristics of GLA

lysoomal disorder , lack of acitivy from GLA enzyme, increase lipid in the body, affects males

symptoms

change over time, pain in extremities, lesions, sweating, vision , excess protein in urine.

• middle age males - cardiac and strokes.

• females - have milder symptoms or have same conditions

genetic components

GL3 accumulation, disrupt cell functions, on x chromosome 7 exon and 6 introns

mutation

pathogenic (early fabry disesase) - type 1 - severe, early symptoipns. type 2 - milder effects later in life

type 1

• little to no GLA activity, early onset , 40 years life expectancy

type 2

• residual GLA actvitiy, onset 4-7th decades, often misdiagnosed

diagnosing / method

pains, diarrhea, nausea. examining the GLA activity in plasma and done by genetic study

treatment

enzyme replacement therapy. slows progression of disease in patients and can stop in younger or

• chaperone therapy (to refold the GLA to regain proper function nbut only to select mutations )

evo forces

x linked mutation,

2 phenos type 1 and 2. gene flow ->> thru migration, chinese pirates were brought in 500 years

frequency

in china, japan and SE asia. bc of gene flow or foudner effect. 1-2200 m-40000 males, no male to male contact. affected by mating practices, inbreeding, genetic strift

adaptations

hetero advantage - increase to provide antigenic peptides from antigens to the immune systems, benefits depend on what alleles they posses. may aid in protection from patogens.

• increases the cholesterol levels (greater in Fabry cells)N thru transport and altered lipid metabolism. potential adaption responses to the environment.

• podocyte - epithelial cell, sensors to faclintate filtration, role in the immune system and protetctive function s