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Canavan disease occurs because of mutations in the aspartoacylase (ASPA) gene that affects the breakdown (metabolism) of the N-acetylaspartic acid (NNA). It is inherited as an autosomal recessive condition. Canavan disease belongs to a group of disorders known as the leukodystrophies.
Canavan disease is caused by mutation in the gene for an enzyme called aspartoacylase, which acts to break down the concentrated brain chemical known as N-acetyl-aspartate. Symptoms of Canavan disease usually appear in the first 3 to 6 months of life and progress rapidly.
Is Canavan disease a gene mutation or a chromosome mutation?
1 Overview of Canavan (Van Bogaert–Bertrand) Disease. Canavan disease (CD) is a rare pediatric leukodystrophy caused by inactivating mutations of the aspartoacylase (ASPA) gene, located on human chromosome 17p13.
Which diseases are caused by mutation?
Some well-known inherited genetic disorders include cystic fibrosis, sickle cell anemia, Tay-Sachs disease, phenylketonuria and color-blindness, among many others. All of these disorders are caused by the mutation of a single gene.
It is caused by a deficiency of the enzyme aminoacylase 2, and is one of a group of genetic diseases referred to as leukodystrophies. It is characterized by degeneration of myelin in the phospholipid layer insulating the axon of a neuron and is associated with a gene located on human chromosome 17.
How is Shay disease?
Gaucher (go-SHAY) disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver. This causes these organs to enlarge and can affect their function. The fatty substances also can build up in bone tissue, weakening the bone and increasing the risk of fractures.
What does the 17th chromosome do?
The RARA gene on chromosome 17 provides instructions for making a transcription factor called the retinoic acid receptor alpha (RARα). A transcription factor is a protein that attaches (binds) to specific regions of DNA and helps control the activity (transcription) of particular genes.
Is Canavan disease heterozygous?
Each pregnancy of a couple in which both partners are heterozygous for a pathogenic variant in ASPA has a 25% chance of resulting in a child with Canavan disease, a 50% chance of resulting in a child who is an asymptomatic carrier, and a 25% chance of resulting in a child who is unaffected and not a carrier.
What are some examples of mutations?
Other common mutation examples in humans are Angelman syndrome, Canavan disease, color blindness, cri-du-chat syndrome, cystic fibrosis, Down syndrome, Duchenne muscular dystrophy, haemochromatosis, haemophilia, Klinefelter syndrome, phenylketonuria, Prader–Willi syndrome, Tay–Sachs disease, and Turner syndrome.
What are the 4 types of mutations?
Summary
- Germline mutations occur in gametes. Somatic mutations occur in other body cells.
- Chromosomal alterations are mutations that change chromosome structure.
- Point mutations change a single nucleotide.
- Frameshift mutations are additions or deletions of nucleotides that cause a shift in the reading frame.
What are other names for Canavan disease?
(Discuss) Proposed since May 2021. Canavan disease, or Canavan-Van Bogaert-Bertrand disease, is a rare and fatal autosomal recessive degenerative disorder that causes progressive damage to nerve cells and loss of white matter in the brain.
Is Canavan disease fatal?
Canavan disease is a hereditary condition that prevents the brain’s nerve cells (neurons) from properly sending and receiving information. Although this fatal neurological condition can affect children of any ethnic background, it’s most common in the Ashkenazi Jewish population.
Canavan disease is caused by disruptions or changes (mutations) to the aspartoacylase (ASPA) gene. This mutation is inherited as an autosomal recessive trait.
Canavan disease is found most often in persons of Ashkenazi (German and Eastern European) Jewish ancestry. It is estimated that 1 in 40 Ashkenazi Jews is a carrier of the Canavan gene.
How is Canavan disease inherited?
Canavan disease is inherited in an autosomal recessive pattern, meaning that a child must inherit one copy of the mutated gene from each parent in order to develop the disease. Although Canavan disease may occur in any ethnic group, it occurs more frequently among Ashkenazi Jews from Poland, Lithuania, and western Russia, and among Saudi Arabians.
What is Canavan disease?
Canavan disease is a progressive, fatal, genetic disorder affecting the central nervous system, muscles, and eyes. Early symptoms in infancy may include increased head size, weakness, low muscle tone and loss of head control. Symptoms progress to seizures, blindness, inability to move voluntarily and difficulty eating solids or swallowing liquids.