What is a kif1a-related disorder?
KIF1A-related disorder is a group of genetic disorders caused by one or more variations (mutations) in the KIF1A gene. Researchers have determined that different variations of this gene have been associated with different signs and symptoms, progression, and severity of disease.
Are there any clinical trials of treatment for kif1a-related Kawasaki syndrome?
Various treatments have been reported in the medical literature as part of single case reports or small series of patients. Treatment trials will be very helpful to determine the long-term safety and effectiveness of specific medications and treatments for individuals with KIF1A-related disorder.
What does the KIF1A gene do?
The KIF1A gene produces a protein that is expressed solely in the brain and nerves. The exact function of this protein is not fully understood.
Are there any recessive forms of KIF1A?
Some males have had small testes or penis, or there is failure of the testes to descend into the scrotum (cryptorchidism). Individuals with recessive forms of KIF1A-related disorder may have symptoms that fit neatly into the categories described, or may have symptoms that look more like the autosomal dominant form of the condition described above.
What is Kifunensine used for?
Kifunensine is a potent inhibitor of the mannosidase I enzyme and is primarily used in cell culture to make high mannose glycoproteins. Inside a cell, it prevents endoplasmic reticulum mannosidase I (ERM1) from trimming mannose residues from precursor glycoproteins.
What does Endo H do?
Endoglycosidase H (Endo H) is commonly used by cell biologists to monitor posttranslational modification in the Golgi apparatus. Most proteins destined for the cell surface are translated by ribosomes into the rough endoplasmic reticulum (ER) and translocated into the Golgi.
What does Endo H cleave?
Endo H cleaves the chitobiose core of high mannose and a limited number of hybrid oligosaccharides from N-linked glycoproteins. It does not cleave complex glycans.
What enzyme removes glycosylation from Sialoglycoproteins?
Use of the enzyme PNGase F is the most effective method of removing virtually all N-linked oligosaccharides from glycoproteins.
What is the purpose of a treatment trial for KIF1A?
Treatment trials will be very helpful to determine the long-term safety and effectiveness of specific medications and treatments for individuals with KIF1A-related disorder.
What is the role of KIF1A in the body?
KIF1A is the gene responsible for production of the KIF1A protein.
What changes can be made to the KIF1A protein?
Changes in DNA can result in changes to how the KIF1A protein is constructed. Variants can be described as changes at the DNA level or protein level using a specific naming system that—at first glance—may look like a bunch of random letters and numbers.
How many people have KIF1A?
Though KIF1A.ORG knows of roughly 300 individuals throughout the world documented with KIF1A gene mutations, it is likely that the incidence of this disease is in the tens of thousands. Many have either been misdiagnosed with disorders exhibiting similar symptoms or have not yet received a diagnosis.
What is a kif1a gene?
KIF1A-Associated Neurological Disorder (KAND) is a rare neurodegenerative disorder caused by one or more changes in the KIF1A gene. When KIF1A.ORG was founded in 2017, this disorder was so rare that it didn’t have a name!
Where is KIF1A located?
The KIF1A protein is part of the kinesin superfamily proteins (KIFs), a type of molecular motor proteins located within the nervous system that are responsible for transporting important cargo, such as nutrients and other molecules, within nerve cells along cellular roadways called microtubules.
Is KIF1A a disease?
Depending on the significance of impact the gene variance has on the function of the KIF1A protein, it may be identified as pathogenic, or disease causing. KIF1A-As sociated Neurological Disorder, or KAND, is a rare, neurodegenerative disorder caused by pathogenic KIF1 A variants. To better understand KAND, check out this short, ...
How rare is KIF1A?
KIF1A-related disorder is extremely rare. The number of people affected by these disorders is unknown. Rare disorders often go undiagnosed or misdiagnosed, making it extremely difficult to determine their true frequency in the general population. As of November 2018, according to KIF1A.org, there are more than 150 people known to have a disease-causing variation in the KIF1A gene.
What is a KIF1A related disorder?
Summary. KIF1A-related disorder is a group of genetic disorders caused by one or more variations (mutations) in the KIF1A gene. Researchers have determined that different variations of this gene have been associated with different signs and symptoms, progression, and severity of disease. Although different variations lead to many ...
How much risk of passing the abnormal gene from affected parent to offspring?
The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy. The risk is the same for males and females. At least two distinct disorders are associated with variations in the KIF1A gene that are inherited in an autosomal recessive pattern.
Is KIF1A inherited?
In some people, a KIF1A-related disorder is inherited in an autosomal recessive pattern and, in other people it can be inherited in an autosomal dominant pattern. KIF1A-related disorder can best be thought of as a spectrum of disease that can range from mild symptoms to severe, life-threatening complications.
Can WES detect KIF1A?
WES can detect variations in the KIF1A gene that are known to cause disease, or variations in other genes known to cause symptoms similar to KIF1A-related disorder. Clinical Testing and Workup. Affected individuals may undergo additional tests to assess the extent of the disease.
Is KIF1A a neurologic disorder?
However, autosomal dominant variations in the KIF1A gene are now understood to cause a complex, neurological disorder. While some affected individuals may have symptoms ...