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Genetic test
I am always skeptical of researchers who have a press release before they can even disclose what gene that they are studying.
The current publication by Dr. Moreau only gives clues that it may be related to melatonin (a hormone that regulates wake/sleep patterns) biology. Even if there is a genetic relationship, there is no data the would support why or how this genetic variation results in scoliosis. This means that this group has at least 10-15 years research until the diagnosis can be used to preventively treat scoliosis.
The only publication by Dr. Moreau is the following:
Spine. 2004 Aug 15;29(16):1772-81.
Melatonin signaling dysfunction in adolescent idiopathic scoliosis.
Moreau A, Wang da S, Forget S, Azeddine B, Angeloni D, Fraschini F, Labelle H, Poitras B, Rivard CH, Grimard G.
Research Center, Sainte-Justine Hospital, Bone Molecular Genetics and Musculoskeletal Malformations Laboratory, Montreal, Quebec, Canada. amoreau@justine.umontreal.ca
STUDY DESIGN: In vitro assays were performed with bone-forming cells isolated from 41 patients with adolescent idiopathic scoliosis and 17 control patients exhibiting another type of scoliosis or none. OBJECTIVE: To determine whether a dysfunction of the melatonin-signaling pathway in tissues targeted by this hormone is involved in adolescent idiopathic scoliosis. SUMMARY OF BACKGROUND DATA: Pinealectomy in chicken has led to the formation of a scoliotic deformity, thereby suggesting that a melatonin deficiency may be at the source of adolescent idiopathic scoliosis. However, the relevance of melatonin in the etiopathogenesis of that condition is controversial because most studies have reported no significant change in circulating levels of melatonin in patients with adolescent idiopathic scoliosis. METHODS: Primary osteoblast cultures prepared from bone specimens obtained intraoperatively during spine surgeries were used to test the ability of melatonin and Gpp(NH)p, a GTP analogue, to block cAMP accumulation induced by forskolin. In parallel, melatonin receptor and Gi protein functions were evaluated by immunohistochemistry and by coimmunoprecipitation experiments. RESULTS: The cAMP assays demonstrated that melatonin signaling was impaired in osteoblasts isolated from adolescent idiopathic scoliosis patients to different degrees allowing their classification in 3 distinct groups based on their responsiveness to melatonin or Gpp(NH)p. CONCLUSION: Melatonin signaling is clearly impaired in osteoblasts of all patients with adolescent idiopathic scoliosis tested. Classification of patients with adolescent idiopathic scoliosis in 3 groups based on functional in vitro assays suggests the presence of distinct mutations interfering with the melatonin signal transduction. Posttranslational modifications affecting Gi protein function, such as serine residues phosphorylation, should be considered as one possible mechanism in the etiopathogenesis of AIS.
Melatonin signaling dysfunction in adolescent idiopathic scoliosis.
I am always skeptical of researchers who have a press release before they can even disclose what gene that they are studying.
The current publication by Dr. Moreau only gives clues that it may be related to melatonin (a hormone that regulates wake/sleep patterns) biology. Even if there is a genetic relationship, there is no data the would support why or how this genetic variation results in scoliosis. This means that this group has at least 10-15 years research until the diagnosis can be used to preventively treat scoliosis.
The only publication by Dr. Moreau is the following:
Spine. 2004 Aug 15;29(16):1772-81.
Melatonin signaling dysfunction in adolescent idiopathic scoliosis.
Moreau A, Wang da S, Forget S, Azeddine B, Angeloni D, Fraschini F, Labelle H, Poitras B, Rivard CH, Grimard G.
Research Center, Sainte-Justine Hospital, Bone Molecular Genetics and Musculoskeletal Malformations Laboratory, Montreal, Quebec, Canada. amoreau@justine.umontreal.ca
STUDY DESIGN: In vitro assays were performed with bone-forming cells isolated from 41 patients with adolescent idiopathic scoliosis and 17 control patients exhibiting another type of scoliosis or none. OBJECTIVE: To determine whether a dysfunction of the melatonin-signaling pathway in tissues targeted by this hormone is involved in adolescent idiopathic scoliosis. SUMMARY OF BACKGROUND DATA: Pinealectomy in chicken has led to the formation of a scoliotic deformity, thereby suggesting that a melatonin deficiency may be at the source of adolescent idiopathic scoliosis. However, the relevance of melatonin in the etiopathogenesis of that condition is controversial because most studies have reported no significant change in circulating levels of melatonin in patients with adolescent idiopathic scoliosis. METHODS: Primary osteoblast cultures prepared from bone specimens obtained intraoperatively during spine surgeries were used to test the ability of melatonin and Gpp(NH)p, a GTP analogue, to block cAMP accumulation induced by forskolin. In parallel, melatonin receptor and Gi protein functions were evaluated by immunohistochemistry and by coimmunoprecipitation experiments. RESULTS: The cAMP assays demonstrated that melatonin signaling was impaired in osteoblasts isolated from adolescent idiopathic scoliosis patients to different degrees allowing their classification in 3 distinct groups based on their responsiveness to melatonin or Gpp(NH)p. CONCLUSION: Melatonin signaling is clearly impaired in osteoblasts of all patients with adolescent idiopathic scoliosis tested. Classification of patients with adolescent idiopathic scoliosis in 3 groups based on functional in vitro assays suggests the presence of distinct mutations interfering with the melatonin signal transduction. Posttranslational modifications affecting Gi protein function, such as serine residues phosphorylation, should be considered as one possible mechanism in the etiopathogenesis of AIS.
Melatonin signaling dysfunction in adolescent idiopathic scoliosis.
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