Uner Tan Syndrome The Ulas Family Essay - 1653 Words

In 2005, a Turkish neuroscientist and evolutionary biologist named Dr. Uner Tan discovered a family with a very unique condition: five of them walk on all fours with a quadrupedal gait. In addition to quadrupedalism, affected individuals showed severe mental retardation and what he described as â€Å"primitive speech.† The presence of these three characteristic symptoms became known as Uner Tan Syndrome. The Ulas family was discovered in a small village near Iskenderun in southern Turkey. At the time of their identification, there were 12 normal children and 7 disabled children, one of whom died. Of the 6 remaining affected children, 5 of them displayed habitual quadrupedal walking. The Ulas family is highly consanguineous (second†¦show more content†¦Humans, due to a highly developed cerebellum, have an unparalleled sense of balance that is specially adapted to bipedalism. MRI scans of all members of the Ulas family showed that the individuals with Uner Tan Sy ndrome had grossly underdeveloped cerebellar vermis, which is responsible for balance and locomotion (See figure 1). Since the discovery of the Ulas family, three additional consanguineous families in Turkey have shown segregation for Uner Tan Syndrome to varying degrees. All together, these families were labeled A, B, C, and D. Families A and D had regular access to medical attention, and both sought treatment for the quadrupedal locomotion. In fact, family A actively discouraged quadrupedal walking. Attempts in both families were unsuccessful, which led researchers to conclude that social factors did not contribute to this behavior (Ozcelik et al. 4234). Although Uner Tan Syndrome is described as a collection of symptoms, the implications of the quadrupedal locomotion has caused it to receive the greatest amount of attention since its discovery. In 2008, Turkish scientists claimed to have found one of the genes responsible, at least in part, to this particular phenotype. Affected individuals in families A and D were homozygous for either deletions or nonsense mutations in the VLDLR gene on chromosome 9. This gene transcribes a very low-density