Gaucher Disease

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Gaucher Disease

Similarities to Other Organisims with this mutation

affects chromosome 1q21

two copies of the N370S mutation of the GBA gene

Gene Mutation

genotypes (N370S) encodes an enzyme that has sufficient residual enzyme activity to ensure that significant neurologic disease does not occur

death

anemia

Bone damage

jaundice

Fatigue

Pain

glucocerebrosidase

Fat Accumulates in:

Bone Marrow

Spleen

Liver

glucocerebroside fat can't be broken down

multifactorial inheritance disorders

Alzheimer's disease

Cancer

Monogenetic Inheritance Disorders

Cystic fibrosis

Life expectancy only into their 50's

Treatment but no cure

Affects cells that make digestive juices

Secretions are thick and clog up the body

Affects cells that makes sweat

Affects cells that makes mucus

Damage to digestive system

Damage to Lungs

Huntington's disease

Psychiatric Disorder

Cognitive Disorder

Movement Disorder

degeneration of nerve cells in the brain

Marfan syndrome

Skeleton

Blood Vessels

Eyes

Heart

Connective tissue

Sickle cell anemia

Vision Problems

Delayed puberty

Damage Spleen

Pneumonia

Infections

Swelling of hands and feet

Intense pain for days

Red blood cells die in 10 days instead of 120

No Cure

Painful

Sticky and stick to walls of veins

Shaped like sickles

Shape of red blood cells

Iron overload (hemochromatosis)

Reproductive System issues

early menopause in women

Erectile dysfunction

Grey Skin

Problems with the spleen, adrenal glands, pituitary gland, gallbladder or thyroid

Diabetes

Arthritis (joint damage)

damage to pancreas

Damage to liver

Liver failure

Liver cancer

Enlarged liver

Cirrhosis (scarring)

Damage to heart

Heart failure

Arrythmia (irregular heartbeat)

Hemochromatosis

body stores too much iron

Make red blood cells

Help hemoglobin in blood cells carry oxygen throughout your body.

Patterns of Evolution

Types of Gacuher Disease

Type 3 is chronic neuronopathic

It is treatable

primary central nervous system involvement,

eye movement disorders

seizures

liver and spleen enlargement

breathing problems

blood disorders

skeletal problems

Type 2 is called acute neuronopathic

primary central nervous system involvement

neurological impacts

abnormal accumulation of glucocerebroside in the brain

affects newborns and infants

It is fatal

Type 1 is called non-neuronopathic

lack of primary central nervous system involvement

don't have enough platelets in their blood

Proteins in blood

How platelets function

possibly kidney, lung, and skeletal problems

enlarged liver or spleen

bruise easily and feel tired often

history of excessive or prolonged bleeding

Subtopic

Surgical procedure

Minor cut

Women more prone than men

Skin becomes thinner

Some dietary supplements, such as ginkgo biloba, have a blood-thinning effect.

Corticosteroids thin the skin, making it easier to bruise

protective fatty layer that helps cushion blood vessels from injury gets thinner

Blood leaks out of vessels and appears as dark matter under the skin.

Small blood vessels (cappilaries) are broken

Arms

Legs

Blow/Injusry

It is treatable.

affects 90% of people

Treatment

glucocerebrosidase enzyme given intravenously

enzyme replacement therapy

Population Affected

Ashkenazi Jewish population 1 in 500 persons

affects approximately 1 in 100,000 persons

How the Mutation Arose

increased risk of developing Parkinson disease and related disorders

it is an autosomal recessive inherited disorder that affects the metabolism

passed down from parent to child

Transmission from carrier parents

1 in 4 (25 percent) chance to have a child who is neither affected nor a carrier

1 in 2 (50 percent) chance to have a child who is a carrier like themselves

1 in 4 (25 percent) chance to have a baby born with Gaucher disease

lack of phenotypes

verified by a beta-glucosidase leukocyte (BGL) test

50% of people diagnosed are under the age of 20

GBA gene (glucosylceramidase beta)