Genetic mutation slows down growth hormone secretion

August 12th, 2008 - 3:22 pm ICT by IANS  


Washington, Aug 12 (IANS) A mutation that is behind a childhood tumour syndrome also slows down growth hormone secretion, according to Washington University School of Medicine researchers. The discovery provides new insights into an old mystery, revealing why patients with neurofibromatosis type-1 (NF1) are frequently shorter than their peers.

These surprising details have prompted scientists to modify search for ways of treating the inherited disorder, caused by a mutation in NF1 gene, characterised by an increased risk of cancer.

“We’ve learned that the NF1 gene affects stature through a different pathway than the one we’ve previously focussed on, to understand cancers in patients with neurofibromatosis type 1,” said WU neurologist David H. Gutmann.

“Given that this second pathway has been linked to cancer in other contexts, we may need to consider the possibility that it is contributing to these tumours and alter our treatment goals accordingly.”

Neurofibromatosis 1 affects more than 100,000 people in the United States and is one of the most common tumour predisposition syndromes. The severity of the condition varies.

The results appear online in the journal Human Molecular Genetics.

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