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When the girl was 8 age old , she begin to quickly gain weight , and put on 75 pounds by the time she was 9 . She was instruct to exercise , which help stabilize her free weight , but when she exerted herself , she turned blue .
Then at 9 , she developed breathing problems . doctor first think she had asthma , then pneumonia . It was n’t until she was taken to the pinch elbow room with extremely low oxygen levels in her parentage that doctors suspected her seemingly disjoined symptom might be connect .
A study suggests that genetic differences between twins may explain why a disease afflicts one twin, but not the other.
The young lady was later diagnose withRapid - onset obesity with hypothalamic dysfunction , hypoventilation , and autonomic dysregulation , or ROHHAD , anextremely rare conditionthat has been identify in just 75 hoi polloi worldwide .
But there is something that makes this girl ’s fount even more unique : She has an identical Twin Falls . Although the distich have the same desoxyribonucleic acid , the girl ’s sis has so far show no signs of the affliction .
That ’s beat because researchers had mistrust ROHHAD was genic .
" [ The other ] twin continues to do fine , which is amazing , " said Dr. Pallavi Patwari , who handle the girl at Children ’s Memorial Hospital in Chicago , and is one of the public ’s few experts on ROHHAD . " It really speaks to the fact that there ’s a lot of things that we need to learn about ROHHAD , " Patwari allege .
The twins ' font , overseen by Patwari and her colleagues , provides a unique window to study ROHHAD ’s case . It suggests thatepigenetics , or the way our cells learn our factor , may play a greater role than genes themselves , she said . Though identical similitude have the same DNA chronological sequence , their cells could register their genes differently .
" We really have to start front more broadly than the simple DNA episode , " Patwari tell .
rarefied diseaseChildren with ROHHAD suffer an array of symptoms . The first house is usuallyrapid weighting gain . Other symptoms include early puberty , ventilation problem and tumors in nerve tissue . The disease usually strikes between the eld of 1 and 10 .
Many of the disease ’s feature are due to problem in the part of the brain anticipate the hypothalamus , which is involved in regulating the body ’s automatic social function , such as eubstance temperature , hunger and breathing .
The breathing problems in ROHHAD are unequaled , Patwari read . " It ’s not that they form severely to respire or that they feel unretentive of breath , " she enounce . It ’s that the brainiac does not send signaling to increase the breathing rate when it call for to , such as when the oxygen level are too dispirited .
The Gemini with ROHHAD later developed neoplasm in her nerve tissue , which were removed , and job with her eye rate . She had a pacesetter imbed when she was 10 years old . Now 13 , her condition is static , and she require ventilator funding only at Nox .
The other Twin Falls also gained weight when she was a teen , but her weight amplification was mild compared to that of her sister , and she did not have breathing problem .
Is it genetic?Although only one similitude acquire ROHHAD , the disease could still be part genetic , the researchers suppose . It could be that a mutation predisposes someone to ROHHAD , but something in the environment triggers its development .
Another idea is that the disease is correct off by the body ’s reception to cancer cells , although tumor occur in only about 40 percent of font .
Patwari say she and colleagues hope to equate the entire genome of the counterpart to gain insight into ROHHAD ’s reason . They also require to appear for the presence of epigenetic modification that might move around sure genes on or off . However , get support for this research has been hard .
inquiry on this rare upset might also have blanket app . Patwari desire it can supply a greater cognition of what causes obesity .
" If we empathise ROHHAD , we ’re hoping we ’ll understand a piece of what goes into the action that cause obesity in general , " Patwari enjoin .
Pass it on : A case of twin girls in which one twin has a ROHHAD and the other does not may supply perceptiveness into the causal agency of this uncommon disorder .
