What is a TTN test?
Diagnostic testing of this gene is recommended to identify a potential genetic basis for a condition. This type of testing can inform prognosis and clinical care for a symptomatic patient or be used to screen unaffected patients (including family members) for increased genetic risk for the condition.
How many exons are a part of the TTN gene?
TTN is the largest protein in the human body, which is encoded by 364 exons of the TTN gene that produce a protein of between 27,000 and 33,000 amino acids in length with a molecular weight ranging between 2,900 and 3,800 kDa (Freiburg et al., 2000; LeWinter et al., 2007).
How many people in the world have titin gene mutation?
35 million people globally could be affected by this gene mutation. PublicDomainPictures / Pixabay Around 1% of the population carries a genetic mutation which can have a strong impact on their heart health. It all comes down to a special protein in the body called titin.
What is the minimum length of the human gene for titin?
With its length of ~27,000 to ~35,000 amino acids (depending on the splice isoform), titin is the largest known protein. Furthermore, the gene for titin contains the largest number of exons (363) discovered in any single gene, as well as the longest single exon (17,106 bp).
What is the TTN gene?
The TTN gene provides instructions for making a very large protein called titin. This protein plays an important role in muscles the body uses for movement (skeletal muscles) and in heart (cardiac) muscle. Slightly different versions (called isoforms) of titin are made in different muscles.
What causes titin muscular dystrophy?
TMD is caused by a mutation in the TTN gene, which provides instructions to build the titin protein. Titin plays a vital role in the contraction and relaxation of muscles. As a result of mutations in the TTN gene, the function of the titin protein is altered, which causes muscle weakness and wasting over time.
What is the largest protein in your body?
Titin
Titin, is definitely the largest protein in the body, with a molecular weight of 3 million Dalton and composed of 27,000 amino acids. Paradoxically, this huge structure was elusive until the last decade but, since it was described in muscle tissue, its importance has rapidly emerged.
What is a TTN mutation?
TTN gene mutations account for approximately one-quarter of all cases of familial dilated cardiomyopathy. These mutations result in the production of an abnormal titin protein, particularly isoforms that are found in cardiac muscle.
Does everyone have the TTN gene?
Everyone has two copies of the TTN gene, one is inherited from the mother, the other one from the father. TMD is inherited in an autosomal dominant pattern, meaning that one mutated copy of the TTN gene is sufficient to cause the disease.
What is TTN mutation?
What is the word with 189 819 letters?
titin
methionylthreonylthreonylglutaminylalanyl… You’ll notice there’s an ellipsis here, and that’s because this word, in total, is 189,819 letters long, and it’s the chemical name for the largest known protein, titin. Technical words can grow to enormous lengths, but they also kind of suck all the fun out of this question.
How is dilated cardiomyopathy inherited?
In 80 to 90 percent of cases, familial dilated cardiomyopathy is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent.