Growth Hormone Therapy in Progeria

  title={Growth Hormone Therapy in Progeria},
  author={A. Sadeghi-Nejad and L. Demmer},
  journal={Journal of Pediatric Endocrinology and Metabolism},
  pages={633 - 638}
Catabolic processes seen in Hutchinson-Gilford progeria resemble those of normal aging and, in the affected children, usually result in death at an early age. In addition to its growth promoting effects, growth hormone (GH) has potent anabolic properties. Administration of GH ameliorates some of the catabolic effects of normal aging. We report the results of GH treatment in a young child with progeria. 
An Overview : Projeria
Progeria is an extremely rare genetic disorder, characterized by rapid ageing, from childhood, which is normal human ageing, but happening at thrice the speed in children. Expand
Hutchinson–Gilford Progeria Syndrome: A Premature Aging Disease
A lot of research is needed to solve this mystery; hopefully, future research on HGPS would provide important clues for progeria and other fatal age-related disorders. Expand
The main clinical and radiological features include alopecia, thin skin hypoplasia of nails, loss of subcutaneous fat, and osteolysis, while other organs appear to be unaffected. Expand
Short stature in a boy with atypical progeria syndrome due to LMNA c.433G>A [p.(Glu145Lys)]: apparent growth hormone deficiency but poor response to growth hormone therapy
To the best of the knowledge, this is the first patient with APS showing partial empty sella and GH deficiency that might have contributed to his poor growth and GH treatment failed to improve long-term outcome. Expand
Progeroid syndrome patients with ZMPSTE24 deficiency could benefit when treated with rapamycin and dimethylsulfoxide
It is concluded that rapamycin and dimethylsulfoxide are beneficial for improving nuclear morphology and cell proliferation of MADB fibroblasts and data from a single RD patient's fibro Blasts suggest that prelamin A accumulation by itself might not be detrimental and requires additional alterations at the cellular level to manifest the phenotype. Expand
Laminopathies’ Treatments Systematic Review: A Contribution Towards a ‘Treatabolome’
This project gathered evidence of specific treatments for laminopathies via a systematic literature review adopting the FAIR (Findable, Accessible, Interoperable, and Reusable) guidelines for scientific data production to provide a shareable dataset of existing variant-specific treatment for rare diseases within the Solve-RD EU project. Expand


Response to nutritional and growth hormone treatment in progeria.
The results suggest that elevated GH levels are characteristic of this disease and that an elevated basal metabolic rate (BMR) could be the cause of the FTT seen in HGP. Expand
Effects of human growth hormone in men over 60 years old.
  • Xel, F. G, +18 authors Attson
  • Medicine
  • The New England journal of medicine
  • 1990
Diminished secretion of growth hormone is responsible in part for the decrease of lean body mass, the expansion of adipose-tissue mass, and the thinning of the skin that occur in old age. Expand
A Protein Farnesyltransferase Inhibitor Ameliorates Disease in a Mouse Model of Progeria
Results suggest that FTIs may have beneficial effects in humans with progeria, and tested the efficacy of an FTI (ABT-100) in Zmpste24-deficient mice, a mouse model of progeria. Expand
The Plasticity of Aging: Insights from Long-Lived Mutants
Mutations in genes affecting endocrine signaling, stress responses, metabolism, and telomeres can all increase the life spans of model organisms, leading to a mechanistic understanding of how these two processes--aging and disease susceptibility--are linked. Expand
Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome
Evidence of mutations in lamin A (LMNA) as the cause of Hutchinson–Gilford progeria syndrome is presented, and the discovery of the molecular basis of this disease may shed light on the general phenomenon of human ageing. Expand
Lamin A-Dependent Nuclear Defects in Human Aging
It is shown that the same molecular mechanism responsible for HGPS is active in healthy cells, and inhibition of this splice site reverses the nuclear defects associated with aging. Expand
Cell biology: Ageing nucleus gets out of shape
In certain premature-ageing syndromes, the architecture of the cell nucleus is abnormal. An animal model shows similar malformations during normal ageing, corroborating the idea that genomeExpand
Distinct structural and mechanical properties of the nuclear lamina in Hutchinson–Gilford progeria syndrome
In contrast to the nuclear fragility seen in lmna null cells, the lamina network in HGPS cells has unique mechanical properties that might contribute to disease phenotypes by affecting responses to mechanical force and misregulation of mechanosensitive gene expression. Expand
Misteli T . Lamin Α - dependent nuclear defects in human aging
  • Science
  • 2006
Y a n g SH, Coff inier C, Young SG. A protein farnesyl t ransferase inhibitor ameliorates disease in a mouse model of progeria
  • Science
  • 2006