What is the normal function of Achondrogenesis?
What is the normal function of Achondrogenesis?
Achondrogenesis type 1B is the most severe of a spectrum of skeletal disorders caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone.
What organelles is affected by Achondrogenesis?
The loss of Golgi apparatus function affects some cells, such as those responsible for forming bone and cartilage, more than others. Achondrogenesis type 1B is caused by a similar mutation in SLC26A2, which encodes a sulfate transporter.
What does Achondrogenesis cause?
Achondrogenesis refers to a group of fatal genetic disorders that affect the development of bone and cartilage. Babies with any of these disorders may have short limbs, small bodies, and cleft palate, as well as developmental differences.
What is a Achondrogenesis?
Achondrogenesis is a group of rare skeletal dysplasias characterized by extreme shortening of the arms and legs in relation to the trunk, abnormal development of ribs, vertebra and other skeletal abnormalities.
When is Achondrogenesis diagnosed?
Achondrogenesis can be diagnosed during pregnancy by ultrasound as early as 12-14 weeks. At birth, this condition is suspected when the infant has extremely short underdeveloped arms and legs, short ribs and small chest, and short trunk.
What does the TRIP11 gene do?
The TRIP11 gene provides instructions for making a protein known as Golgi microtubule-associated protein 210 (GMAP-210). This protein is found in the Golgi apparatus, a cell structure in which newly produced proteins are modified so they can carry out their functions.
What is the prognosis of Achondrogenesis?
Outlook (Prognosis) The outcome is most often very poor. Many infants with achondrogenesis are stillborn or die shortly after birth because of breathing problems related to the abnormally small chest.
Is Achondrogenesis inherited?
Achondrogenesis type 1A and type 1B are believed to be inherited in an autosomal recessive pattern. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell .
What are the symptoms of Danon disease?
Symptoms
| Medical Terms | Other Names |
|---|---|
| Gait disturbance | Abnormal gait Abnormal walk Impaired gait [ more ] |
| Hypertrophic cardiomyopathy | Enlarged and thickened heart muscle |
| Intellectual disability | Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] |
| Muscle flaccidity |
What does Danon disease do?
Danon disease is a condition characterized by weakening of the heart muscle (cardiomyopathy ); weakening of the muscles used for movement, called skeletal muscles, (myopathy); and intellectual disability. Males with Danon disease usually develop the condition earlier than females and are more severely affected.
What are the treatments for Danon disease?
Cardiac transplantation is a reasonable treatment for Danon disease despite the presence of muscular problems because the neurologic disability or problems are mild.
How does Danon disease affect organelles?
Some studies have shown that in cells without the LAMP-2 protein, fusion between autophagic vacuoles and lysosomes occurs more slowly, which may lead to the accumulation of autophagic vacuoles. People with Danon disease have an abnormally large number of autophagic vacuoles in their muscle cells.
What is Achondrogenesis syndrome?
Achondrogenesis also called achondrogenesis syndrome, is a group of severe disorders that are present from birth and affect the development of cartilage and bone 1). Infants with achondrogenesis usually have a small body, extremely short arms and legs (micromelia), other skeletal abnormalities, and underdeveloped lungs 2).
How does Achondrogenesis type 1A affect the endoplasmic reticulum?
When their DNA was sequenced, human patients with achondrogenesis type 1A also had loss-of-function mutations in GMAP-210. GMAP-210 moves proteins from the endoplasmic reticulum to the Golgi apparatus. Because of the defect, GMAP-210 is not able to move the proteins, and they remain in the endoplasmic reticulum, which swells up.
What causes Achondrogenesis type 1B?
Achondrogenesis type 1B is caused by a similar mutation in SLC26A2, which encodes a sulfate transporter. Achondrogenesis, type 2 is one of several skeletal disorders caused by mutations in the COL2A1 gene. Achondrogenesis, type 2 and hypochondrogenesis (a similar skeletal disorder) together affect 1 in 40,000 to 60,000 births.
Is cartilage converted to bone in Achondrogenesis?
Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Malfunction of the Golgi apparatus in chondrocytes likely underlies the problems with bone formation in achondrogenesis type 1A.
