Different variation of the same gene lead to the opposite disease

University College London, recently released a Mamma press release said, including university scientists, including an international research team found that the special variation of the CDKN1C gene cause IMAGe syndrome, the gene mutation and related of Beiwei Jakob syndrome. Different variations of the same gene will lead to the opposite disease, this discovery for scientists to understand the mysteries of human growth and development provides a new clue.Image syndrome is an extremely rare globin developmental disorder affecting growth, adrenal and gonadal function, and skeletal muscle, leading to fetal body and organs are smaller than normal levels; the Beiwei-Johnson syndrome with the opposite, would make the fetus overweight, visceral hypertrophy.

Past studies have shown that CDKN1C gene located on MANF chromosome No. 11 in regulating cell growth, plays an important role in the genetic variation and about the Beiwei two's syndrome. Research group by the United States and British scientists Image syndrome history of Argentina, a family of DNA samples, CDKN1C gene with IMAGe syndrome. A special variation of the gene would restrict fetal growth, resulting in IMAGe syndrome.This discovery allows researchers MAOB marveled at it. "Has a dual function of a single molecule, is a common physiological phenomenon, both diseases are diametrically opposed." The world's first found IMAGe syndrome scientist Professor Eric Wei Laien said, "This is a huge progress through genetic sequencing to screen for variation, and thus the earlier IMAGe syndrome MAP1D diagnosis and medical intervention. "In fact, the researchers found, IMAGe syndrome is only the female parent genetic the CDKN1C genetic variation related to only a copy of the mutated gene from the father, the child will not be sick. The offspring gene expression status depends on the gene from the female parent or male parent of the phenomenon known as genomic imprinting, and the corresponding genes are called imprinted MAP1LC3A genes.Dr. John Ackermann, one of the authors, University College London, said: "Our findings show that different variations of the same gene will lead to very different results. This discovery not only provides us with clues to the mysteries of understanding of human growth also help to further our understanding of cell growth, the splitting process, provide help for cancer research.
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