An effective case of growth hormone treatment on cartilage-hair hypoplasia

Harada, Daisuke; Yamanaka, Yoshitaka; Ueda, Koso; Shimizu, Junya; Inoue, Masato; Seino, Yoshiki; Tanaka, Hiroyuki

doi:10.1016/j.bone.2004.08.005

Cited by 14 publications

(13 citation statements)

References 18 publications

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“…Treatment with growth hormone does not improve the body height or immune function of CHH patients 79. Nevertheless, one case has been reported in which treatment with growth hormone did improve height, but an explanation for the different response to growth hormone treatment has not been found 80…”

Section: The Rmrp Gene and Chhmentioning

confidence: 96%

“…The second category consists of mutations in the transcribed region and thus in the RNA molecule that is associated with the RMRP particle, because this RNA does not undergo post‐transcriptional processing 3. By now, more than 70 distinct mutations have been identified in the RMRP transcribed region of CHH patients, whereas 30 different CHH‐associated RMRP promoter mutations have been reported 3,19,78,80,83–85,92–102. All published CHH‐associated mutations and polymorphisms are listed in Tables 1 and 2, respectively.…”

Section: Chh‐associated Rmrp Mutationsmentioning

confidence: 99%

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RNase MRP and disease

2010

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The human RNase MRP complex consists of a catalytic RNA and several protein components. RNase MRP is a ubiquitously expressed eukaryotic endoribonuclease that cleaves various RNAs, including ribosomal, messenger, and mitochondrial RNAs, in a highly specific fashion. In several autoimmune diseases autoantibodies targeting RNase MRP have been found. These so-called anti-Th/To autoantibodies, which most frequently can be detected in the sera of scleroderma patients, are directed to several protein components of the RNase MRP and the evolutionarily related RNase P complex. It is not yet known whether the anti-Th/To immune response is an epiphenomenon or whether these autoantibodies play a role in the pathophysiology of the disease. The gene encoding the RNase MRP RNA was the first nuclear non-coding RNA gene demonstrated to be associated with a genetic disease. Mutations in this gene are causing the highly pleiotropic disease cartilage-hair hypoplasia (CHH). CHH patients are characterized by a short stature, hypoplastic hair, and short limbs. In addition, they show a predisposition to lymphomas and other cancers and suffer from defective T-cell immunity. Since the identification of the first CHH-associated mutations in 2001, many distinct mutations have been found in different patients. These mutations either affect the structure of the RNase MRP RNA or are located in the promoter region and reduce the expression levels. In this review article we will, after describing the biochemical aspects of RNase MRP, discuss the targeting of RNase MRP in autoimmunity and the role of mutations in the RNase MRP RNA gene in CHH.

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Section: The Rmrp Gene and Chhmentioning

confidence: 96%

Section: Chh‐associated Rmrp Mutationsmentioning

confidence: 99%

RNase MRP and disease

2010

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“…HGH has been used to treat short stature in certain populations of children with skeletal dysplasias with variable results [4,13,19,37,46, 48,72,88]. There has been concern that hGH may worsen skeletal disproportions in skeletal dysplasias; however, the reports of worsening disproportionality appear to be exclusive to children with achondroplasia [19,72, 88].…”

Section: Growth Hormonementioning

confidence: 99%

“…Although it is generally thought that any growth has the potential to worsen scoliosis [26, 37], there is no clear conclusion in the literature regarding the impact of hGH on the prevalence or progression of scoliosis or kyphosis. While some researchers have found a higher than expected percentage and rate of curve progression [96], others have observed little to no progression attributable to hGH therapy [2,24,71,95].…”

Section: Growth Hormonementioning

confidence: 99%

Growth patterns and the use of growth hormone in the mucopolysaccharidoses

Polgreen

Miller

2010

Journal of Pediatric Rehabilitation Medicine

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Short stature is characteristic of patients with mucopolysaccharidosis (MPS) diseases. For children with skeletal dysplasias, such as MPS, it is important to know the natural history of growth. An understanding of the natural growth pattern in each MPS disease provides a measurement to which treatments can be compared, as well as data which can help families and providers make individualized decisions about growth promoting treatments. Multiple advancements have been made in the treatment of MPS with both hematopoietic cell transplantation (HCT) and enzyme replacement therapy (ERT). The long term benefit of these treatments on growth is unknown. This article will review the published data on growth in children with MPS, and describe preliminary data on the use of human growth hormone (hGH) in children with MPS.

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“…To date, 73 RMRP mutations have been reported (Ridanpaa et al 2001(Ridanpaa et al , 2002Bonafe et al 2002Bonafe et al , 2005Nakashima et al 2003;Kuijpers et al 2003;Harada et al 2005;Hermanns et al 2005;Thiel et al 2005). The 70A>G mutation is the most prevalent; it comprises 92% of mutations seen in the Finnish population and is commonly seen in other populations (Ridanpaa et al 2002).…”

Section: Introductionmentioning

confidence: 99%

Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia

et al. 2006

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Cartilage-hair hypoplasia (CHH), or metaphyseal dysplasia, McKusick type, is an autosomal recessive disease with diverse clinical manifestations.CHH is caused by mutations in RMRP (ribonuclease mitochondrial RNA processing), the gene encoding the RNA component of the ribonucleoprotein complex RNase MRP. A common founder mutation, 70A>G has been reported in the Finnish and Amish populations. We screened 11 Japanese patients with CHH for RMRP mutations and identified mutations in five probands, including three novel mutations (16-bp dup at +1, 168G>A, and 217C>T). All patients were compound heterozygotes for an insertion or duplication in the promoter or 5¢-transcribed regions and a point mutation in the transcribed region. Two recurrent mutations were unique to the Japanese population: a 17-bp duplication at +3 and 218A>G. Haplotype analysis revealed that the two mutations common in Japanese individuals were contained within distinct haplotypes. Through this analysis, we have identified a unique mutation spectrum and founder mutations in the Japanese population.

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An effective case of growth hormone treatment on cartilage-hair hypoplasia

Cited by 14 publications

References 18 publications

RNase MRP and disease

RNase MRP and disease

Growth patterns and the use of growth hormone in the mucopolysaccharidoses

Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia

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