survival of motor neuron 1, telomeric
Última actualización 18 Aug 2020
Cumple con las directrices editoriales
- DescargarDescargar
- Compartir
- Language
- Discusión
- Versión en audio
- Agregar a fuentes preferidas en Google
El SMN1 gene provides instructions for making the survival motor neuron (SMN) protein. The SMN protein is found throughout the body, with highest levels in the spinal cord. This protein is one of a group of proteins called the SMN complex, which is important for the maintenance of specialized nerve cells called motor neurons. These cells are located in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). Motor neurons transmit signals from the brain and spinal cord that tell skeletal muscles to tense (contract), which allows the body to move.
Normal function
El SMN1 gene provides instructions for making the survival motor neuron (SMN) protein. The SMN protein is found throughout the body, with highest levels in the spinal cord. This protein is one of a group of proteins called the SMN complex, which is important for the maintenance of specialized nerve cells called motor neurons. These cells are located in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). Motor neurons transmit signals from the brain and spinal cord that tell skeletal muscles to tense (contract), which allows the body to move.
In cells, the SMN complex plays an important role in processing molecules called messenger RNA (mRNA), which serve as genetic blueprints for making proteins. Messenger RNA begins as a rough draft (pre-mRNA) and goes through several processing steps to become a final, mature form. The SMN complex helps to assemble the cellular machinery needed to process pre-mRNA. The SMN complex is also important for the development of specialized outgrowths from nerve cells called dendrites and axons. Dendrites and axons are required for the transmission of impulses between neurons and from neurons to muscles.
A small amount of SMN protein is produced from a gene similar to SMN1 llamado SMN2. Several different versions of the SMN protein are produced from the SMN2 gene, but only one version is functional; the other versions are smaller and quickly broken down.
Conditions referring to this gene or chromosome
Otros nombres
BCD541
SMA1
SMA2
SMA3
SMA4
SMN_HUMAN
SMNT
T-BCD541
telomeric SMN
Related patient information and medicines
Patient information leaflet
Enfermedad de la neurona motora
Motor neurone disease (MND) es un neurological condition causes a progressive weakness and wasting of many of the muscles in the body. There are various types of motor neurone disease. This leaflet is mainly about amyotrophic lateral sclerosis (ALS), which is the most common type of motor neurone disease. Although there is no cure for motor neurone.
Patient information leaflet
Cuidado al final de la vida
Cuidado al final de la vida is a term used to cover the issues you need to think about and plan for, when you are approaching death. In September 2021 the National Institute for Health and Care Excellence (NICE) issued new quality standards about what everyone should be able to expect from end of life care. For example, a person who is told they have motor.
Patient information leaflet
Daño nervioso después de una inyección epidural
The symptoms will depend on the nature of the nerve damage and which type of nerves have been affected. Nerves may be sensory nerves, which help you to feel light touch, pain or whether something is hot or cold. The other main type of nerves are the motor nerves, which take nerve impulses to the muscles in your body and so control movement. Nerve.
Patient information leaflet
COVID-19
COVID-19 es an infectious disease caused by a virus that was first identified in December 2019 en Wuhan, China. This leaflet deals with the symptoms, causes and treatment of COVID-19. Medical trea... Rare conditions affecting the brain and nerves, like multiple sclerosis , motor neurone disease , Huntington's disease and myasthenia gravis. How to.
Patient information leaflet
Neuropatía periférica
Burning or shooting pains - these may be worse at night and might b... If not treated, the symptoms then gradually start to move towards the centre of your body as the neuropathy worsens. If motor nerves son damaged, this is known as motor neuropathy. The stimulation of your muscles by your nerves is affected. It can cause symptoms in affected.
Patient information leaflet
Tumores cerebrales
This leaflet aims to give a brief overview of the various types of brain tumours. The treatment and survival rates vary greatly, depending on factors such as the type of tumour and the location in the brain. Understanding the brain The main parts of the brain include: The cerebrum. This is divided into the right side (right hemisphere) which.
Lecturas adicionales y referencias
- survival of motor neuron 1, telomeric; MedlinePlus, National Library of Medicine.
- Blauw HM, Barnes CP, van Vught PW, van Rheenen W, Verheul M, Cuppen E, Veldink JH, van den Berg LH. SMN1 gene duplications are associated with sporadic ALS. Neurology. 2012 Mar 13;78(11):776-80. doi: 10.1212/WNL.0b013e318249f697. Epub 2012 Feb 8.
- Cartegni L, Hastings ML, Calarco JA, de Stanchina E, Krainer AR. Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2. Am J Hum Genet. 2006 Jan;78(1):63-77. doi: 10.1086/498853. Epub 2005 Nov 16.
- Corcia P, Camu W, Halimi JM, Vourc'h P, Antar C, Vedrine S, Giraudeau B, de Toffol B, Andres CR; French ALS Study Group. SMN1 gene, but not SMN2, is a risk factor for sporadic ALS. Neurology. 2006 Oct 10;67(7):1147-50. doi: 10.1212/01.wnl.0000233830.85206.1e. Epub 2006 Aug 23.
- Corcia P, Camu W, Praline J, Gordon PH, Vourch P, Andres C. The importance of the SMN genes in the genetics of sporadic ALS. Amyotroph Lateral Scler. 2009 Oct-Dec;10(5-6):436-40. doi: 10.3109/17482960902759162.
- Farrar MA, Kiernan MC. The Genetics of Spinal Muscular Atrophy: Progress and Challenges. Neurotherapeutics. 2015 Apr;12(2):290-302. doi: 10.1007/s13311-014-0314-x.
- Fuller HR, Gillingwater TH, Wishart TM. Commonality amid diversity: Multi-study proteomic identification of conserved disease mechanisms in spinal muscular atrophy. Neuromuscul Disord. 2016 Sep;26(9):560-9. doi: 10.1016/j.nmd.2016.06.004. Epub 2016 Jun 7.
- Gubitz AK, Feng W, Dreyfuss G. The SMN complex. Exp Cell Res. 2004 May 15;296(1):51-6. doi: 10.1016/j.yexcr.2004.03.022.
- Kolb SJ, Battle DJ, Dreyfuss G. Molecular functions of the SMN complex. J Child Neurol. 2007 Aug;22(8):990-4. doi: 10.1177/0883073807305666.
- Kolb SJ, Kissel JT. Spinal Muscular Atrophy. Neurol Clin. 2015 Nov;33(4):831-46. doi: 10.1016/j.ncl.2015.07.004.
- Prior TW, Swoboda KJ, Scott HD, Hejmanowski AQ. Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2. Am J Med Genet A. 2004 Oct 15;130A(3):307-10. doi: 10.1002/ajmg.a.30251.
Únete a la conversación
Comparte tus pensamientos o experiencias con otros en nuestro comunidades de pacientes.
Pregunta, comparte, conecta.
Navega por discusiones, haz preguntas y comparte experiencias en cientos de temas de salud.
Suscríbete al boletín de Patient
Tu dosis semanal de consejos de salud claros y confiables, escritos para ayudarte a sentirte informado, seguro y en control.
Al suscribirte aceptas nuestros Política de Privacidad. Puedes darte de baja en cualquier momento. Nunca vendemos tus datos.