High Resolution Melting: improvements in the genetic diagnosis of Hypertrophic Cardiomyopathy in a Portuguese cohort

BMC Medical Genetics 2012, 13:17 doi:10.1186/1471-2350-13-17
Susana Santos, Vanda Marques, Marina Pires, Leonor Silveira, Helena Oliveira
Vasco Lanca, Dulce Brito, Hugo Madeira, Esteves J Fonseca, Antonio Freitas,
Isabel M Carreira, Isabel M Gaspar, Carolino Monteiro, Alexandra R Fernandes.

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Keywords: Hypertrophic cardiomyopathy, Gene-based diagnosis, High Resolution Melting, Sarcomere proteins, CSRP3 gen, FXN gene.

Background: Hypertrophic Cardiomyopathy (HCM) is a complex myocardial disorder with a recognized genetic heterogeneity. The elevated number of genes and mutations involved in HCM limits a gene-based diagnosis that should be considered of most importance for basic research and clinical medicine.

Repligen Initiates Phase 1 Clinical Trial of RG2833 in Patients with Friedreich's Ataxia

WALTHAM, MA - March 15, 2012 - Repligen Corporation (NASDAQ:RGEN) announced today that it has enrolled its first patient in a Phase 1 clinical trial of RG2833 in adult patients with Friedreich's ataxia (FA). read more .....

Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres

European Journal of Human Genetics (2012) 20, 368–375; doi:10.1038/ejhg.2011.202.

Maartje C Van Rij, Marjan De Rademaeker, Céline Moutou, Jos CFM Dreesen, Martine De Rycke, Inge Liebaers, Joep PM Geraedts, Christine EM De Die-Smulders and Stéphane Viville.

Keywords: preimplantation genetic diagnosis (PGD); Huntington's disease (HD); HTT gene; exclusion testing; delivery rates; prenatal diagnosis

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Inheritance patterns of the huntington (autosomal dominant) differ from the friedreich's ataxia ​​(autosomal recessive), but sometimes the future parents know that are carriers before the pregnancy, then, this techniques could be useful. (Important note: this is only scientific information, perhaps some people may have ethical objections with these practices)

Do we always prioritize balance when walking? Towards an integrated model of task prioritization

Mov. Disord.. doi: 10.1002/mds.24963

Yogev- Seligmann, G., Hausdorff, J. M. and Giladi, N. (2012), .

Keywords: dual task, postural control, prioritization executive function, motor and cognitive capabilities,  gait, fall risk, neurological diseases.

Expression of axonal protein degradation machinery in sympathetic neurons is regulated by nerve growth factor

J. Neurosci. Res.. (2012) doi: 10.1002/jnr.23041

Frampton, J. P., Guo, C. and Pierchala, B. A.

Keywords: proteasome, lysosome, NGF, transport, autophagy.

In Friedreich's ataxia research currently there is a work line about the frataxin's degradation by the proteasome , the idea is seeking to delay the degradation of frataxin, and therefore lengthen the shelf life.

References:

Preventing the ubiquitin/proteasome-dependent degradation of frataxin, the protein defective in Friedreich’s Ataxia

New project: Identification of the E3 ligase that ubiquitinates frataxin