Gaucher Disease

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Speculation (but with some backed up information)

Similar gene mutations but different phenotypes

Have the same mutation as people with Gaucher disease

A decrease in the GBA enzyme

leads to the reduction of genetic diversity

increasing the frequency and risk of a new disease in the community

lead to Jewish communities having a higher percentage of gaucher disease

because of their isolated community with similar alleles and genes

The genetic mutation of the GBA gene

mutations are inherited from the parents

Gaucher Disease

Evolution

Similarities to other organisms with this mutation

People with lysosomal storage disorders

Lysosomal storage disorders

Fabry Disease

Batten Disease

Cystinosis

inherited metabolic disorders

Gaucher disease is a lysosomal storage disorders

people with these disorders will experience similar symptoms

People with Parkinson's disease

GBA mutations cause a major genetic risk factor for getting Parkinson's disease

Patterns of evolution that lead to this

Founder effect

when a small portion of a large population establishes a new isolated community

Mutations occurring inside the body

How mutations arose

GBA Enzyme

Genetic mutation

inherited from parents

Lead to the lack of the GBA enzyme

leads to a lysosomal storage disease

Gaucher disease

Genetics

Genetic technologies

Genetic engineering

Prenatal tests

Amniocentesis

Chorionic villus sampling

Enzyme replacement therapy

IV infusions

Inheritance pattern

Autosomal Recessive

Two copies of the abnormal gene must be present

Both parents must be carriers

Affects both sexes equally

Mutations

Phenotype

Anemia

decreased amount of red blood cells

enlarged liver

arthritis

Enlarged spleen

Genotype

GBA gene is mutated

Mutation occurs in both copies of the GBA gene

Changes the amino acid in the GBA enzyme

Which changes the structure of the enzyme

causing the enzyme to not function properly

there is a lack of the GBA enzyme

Responsible for breaking down glucosylceramide

A type of fat

located on chromosome 1