A woman developed 12 tumors — seven benign and five cancerous — before her 40th birthday. Medical researchers recently discovered why she's so prone to the abnormal growths: She carries a set of genetic mutations never seen before in humans.
The woman, now 36 years old, carries two mutant copies of a gene called MAD1L1, one from each parent, according to a new report, published Wednesday (Nov. 2) in the journal Science Advances(opens in new tab). The gene codes for a protein called MAD1, which fulfills a crucial role in cell division.
When one cell splits into two, it first duplicates all its DNA and then packages the genetic material into compact structures called chromosomes. The chromosomes then line up neatly along the cell's midline and get yanked in half; that way, when the mother cell splits in two, half of the DNA ends up in each daughter cell.
The MAD1 protein helps ensure that the chromosomes line up correctly during this process, so all cells end up with the usual 23 pairs of chromosomes, according to UniProt(opens in new tab), a database of protein sequence and functional information. READ MORE...
