What organelle does Pompe disease affect in the cell?
The defect results in a build-up of glycogen in the lysosome, a saclike storage organelle in the cell that acts as a waste-disposal system, leading to muscle weakness, organ damage including the brain, and possible death.
Who does Pompe disease affect?
The disease is rare. In the United States, only 1 person in 40,000 is affected by Pompe disease. It can affect both males and females of all ethnic groups.
How does Pompe disease affect the mitochondria?
We have found multiple mitochondrial defects in mouse and human models of Pompe disease, a life-threatening cardiac and skeletal muscle myopathy: a profound dysregulation of Ca(2+) homeostasis, mitochondrial Ca(2+) overload, an increase in reactive oxygen species, a decrease in mitochondrial membrane potential, an …
What do lysosomes do in Pompe disease?
In Pompe disease, lysosomes do not contain enough of an enzyme called acid alpha-glucosidase (GAA.) This enzyme is necessary to break down glycogen — a complex sugar molecule — into glucose, the simple sugar that the body uses for energy. If glycogen is not broken down, it builds inside cells and causes damage.
What chromosome is Pompe disease on?
Pompe disease is transmitted as an autosomal recessive trait and is caused by mutations in the gene encoding the acid α-glucosidase (GAA), located on chromosome 17q25.
How does Pompe disease affect someone’s life?
Most individuals with late-onset Pompe disease experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing. As the disorder progresses, breathing problems can lead to respiratory failure.
What is the life expectancy of someone with Pompe disease?
They have characteristic heart (cardiac) problems (dysfunction due to heart enlargement) in addition to generalized skeletal muscle weakness and a life expectancy of less than 2 years, if untreated (classic infantile Pompe disease).
What enzyme is responsible for Pompe disease?
Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and skeletal muscles. It is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA).
How is Pompe disease inherited?
Pompe disease is inherited in an autosomal recessive pattern. Recessive genetic disorders occur when an individual inherits a non-working gene from each parent. If an individual receives one working gene and one non-working gene for the disease, the person will be a carrier for the disease.
What are the symptoms of Pompe?
Symptoms begin in the first months of life, with feeding problems, poor weight gain, muscle weakness, floppiness, and head lag. Respiratory difficulties are often complicated by lung infections. The heart is grossly enlarged. Many infants with Pompe disease also have enlarged tongues.
How does Pompe disease affect the human body?
This buildup damages organs and tissues throughout the body, particularly the muscles, leading to the progressive signs and symptoms of Pompe disease. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.
How is Pompe disease a glycogen storage disease?
Pompe Disease. damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme. It is the only glycogen storage disease with a defect in lysosomal metabolism, and the first glycogen storage disease to be identified, in 1932.
Where does the sugar build up in Pompe disease?
Pompe disease is a genetic disorder in which complex sugar called glycogen builds up in the body’s cells.
What causes muscle weakness and wasting in Pompe disease?
Acid alpha-glucosidase (GAA) is one of these enzymes and solely responsible for the shortage or dysfunction of the GAA enzyme causes glycogen to accumulate within the lysosomes leading sequentially to cellular malfunction, cellular damage, tissue damage, and ultimately organ dysfunction. In Pompe, that is manifested as muscle weakness and wasting.
Why is Pompe disease called Pompe?
The disease is named after Joannes Cassianus Pompe, who characterized it in 1932. Pompe described accumulation of glycogen in muscle tissue in some cases of a previously unknown disorder.
Is Pompe disease dominant or recessive?
Pompe disease is inherited in an autosomal recessive manner, which means that two copies of an altered (mutated) gene, one inherited from each parent, is necessary to have the condition. Males and females are equally likely to be affected.
What is organelle does Pearson syndrome affect?
For this reason, Pearson marrow-pancreas syndrome is considered a bone marrow failure disorder. Function of the pancreas and other organs can also be affected. Most affected individuals have a shortage of red blood cells (anemia), which can cause pale skin (pallor), weakness, and fatigue.