Inheritance
On chromosome 1 (on the long arm), there is a span of 57,511 base pairs which are responsible for the gene lamin A (LMNA). This gene codes for the proteins lamin A and lamin C. These proteins stabilize the nuclear membrane.
As discovered in 2003 by NHGRI researchers, the Progeria Research Foundation, the New York State Institute for Basic Research in Developmental Disabilities, and the University of Michigan, a point mutation, the change in one nucleotide base, in the LMNA will cause the production of an irregular lamin A protein.
The location of this mutation is shown below on the long arm of chromosome 1.
As discovered in 2003 by NHGRI researchers, the Progeria Research Foundation, the New York State Institute for Basic Research in Developmental Disabilities, and the University of Michigan, a point mutation, the change in one nucleotide base, in the LMNA will cause the production of an irregular lamin A protein.
The location of this mutation is shown below on the long arm of chromosome 1.
This mutation de-stabilizes the nuclear membrane which results in unwholesome cardiovascular and musculoskeletal systems. This is what gives the people with progeria the aged look about them.
Also observed by the same researchers who discovered the point mutation that causes progeria (NHGRI researchers, the Progeria Research Foundation, the New York State Institute for Basic Research in Developmental Disabilities, and the University of Michigan) was the fact that no relatives of the child with progeria had the mutation. This led to the conclusion that the mutation had to occur sometime during meiosis.
After further and more in depth research, it was found that the mutation in most children with progeria occurred during DNA replication in the sperm during meiosis.
Because the mutation is a point mutation that occurs during DNA replication in the sperm during meiosis, it is concluded that the structure of the chromosome are not affected. It is also concluded that the trait for this disease is not dominant nor recessive because it is not inherited from the parents (because the parents do not have or carry the trait themselves). Genes like these, that are not inherited but caused by a mutation during meiosis, are called de novo genes.
This mutation that causes progeria is extremely rare. So rare in fact, that its presence is difficult to measure. Its reported prevalence varies from 1 in 4 million to 1 in 8 million. It is these same numbers (1/4,000,000 and 1/8,000,000) that measure how likely one is to pass this disorder onto their offspring.
Also observed by the same researchers who discovered the point mutation that causes progeria (NHGRI researchers, the Progeria Research Foundation, the New York State Institute for Basic Research in Developmental Disabilities, and the University of Michigan) was the fact that no relatives of the child with progeria had the mutation. This led to the conclusion that the mutation had to occur sometime during meiosis.
After further and more in depth research, it was found that the mutation in most children with progeria occurred during DNA replication in the sperm during meiosis.
Because the mutation is a point mutation that occurs during DNA replication in the sperm during meiosis, it is concluded that the structure of the chromosome are not affected. It is also concluded that the trait for this disease is not dominant nor recessive because it is not inherited from the parents (because the parents do not have or carry the trait themselves). Genes like these, that are not inherited but caused by a mutation during meiosis, are called de novo genes.
This mutation that causes progeria is extremely rare. So rare in fact, that its presence is difficult to measure. Its reported prevalence varies from 1 in 4 million to 1 in 8 million. It is these same numbers (1/4,000,000 and 1/8,000,000) that measure how likely one is to pass this disorder onto their offspring.