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The Causes of Autism: How Implicated are Chromosomes 7, 15, and X?

The Causes of Autism: How Implicated are Chromosomes 7, 15, and X?

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This study looks at the significance of chromosomes 7, 15 and X in the causes of Autism Spectrum Disorders. It is found that chromosomes 7 and 15 especially are important, while evidence for chromosome X is not so clear. It is concluded that a much more innovative approach is needed in future studies.
This study looks at the significance of chromosomes 7, 15 and X in the causes of Autism Spectrum Disorders. It is found that chromosomes 7 and 15 especially are important, while evidence for chromosome X is not so clear. It is concluded that a much more innovative approach is needed in future studies.

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Published by: Undergraduate Awards on Sep 01, 2012
Copyright:Attribution Non-commercial

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02/11/2014

 
The Causes of Autism: How Implicated AreChromosomes 7, 15, and X?
Liu et al. (2001) explained autism as “a neuropsychiatric disorder characterized by severe social and communicative deficits, together with a pattern of restricted or repetitive behaviours or interests.” Autism itself is just one disorder of a complex groupknown as Autism Spectrum Disorders (ASD). Four other disorders are included in thisspectrum: Rett Syndrome, childhood disintegrative disorder, Asperger Syndrome and pervasive developmental disorder-not otherwise specified (PDD-NOS) (Schanen, 2006).Autism was previously thought to be quite a rare disorder, but now, due to increasedunderstanding, it is estimated to be present in around 1 in 1,000 (Chen et al., 2007).Autism is a complex and highly heritable disorder with distinct evidence of geneticcauses (Veenstra-VanderWeele, 2004). It affects up to four times more males thanfemales (Klauck, 2006). Due to autism’s complexity, no single gene can be implicatedfor its expression. In fact, as many as 15 or more genes could be involved (Santangeloand Tsantsanis, 2005). This study will look in depth at three chromosomes wherecandidate genes have been identified: chromosome 7, 15, and X; and will determine howlikely these genes are to cause autism.So why is autism seen as a genetic disorder? In the late 1960’s, 20 years after Kanner and Asperger first believed autism to have a neuropathological origin, geneticswas accepted as the cause of autism. Twins studies demonstrated that the occurrence of autism in both siblings in monozygotic (identical) twins is about 60% while in dizygotic1
 
(fraternal) twins, it’s around 5%. This indicates the heritability of autism is about 90%(Rutter, 2005). Studies also showed that in twin pairs with only one autistic individual, in82% of monozygotic twins the other twin will have a milder, autistic-like disorder, whilein dizygotic twins, only 10% will have an autistic-like disorder (Folstein and Rosen-Sheidley, 2001). This clearly proves autism has a strong genetic basis. As indicated byRutter, (2005), family studies also point to genetics as the cause. In siblings of autisticindividuals, the percentage of ASD was around 6%, significantly higher than the 0.5% inthe general population. The data from these studies combined show that there could be 3-12 genes that act together to express autism (Rutter, 2005). Chromosomes 7, 15 and Xare some of the most studied chromosomes (Liu et al., 2001) (Folstein and Rosen-Sheidley, 2001) (Veenstra-VanderWeele et al., 2004).
Chromosome 7:
Several full-genome scans have been conducted to detect linkage onchromosomes to autism/ASD. Regions on chromosome 7 have consistently beenidentified as convincing candidate genes; specifically in three studies mentioned by Liu etal. (2001). Other indications that chromosome 7 is related to autism is a region on 7qassociated with language development and repetitive behaviour (Veenstra-VanderWeeleet al., 2004).One of the candidate genes found on the 7q linkage region was the reelin gene(RELN). It’s considered relevant to autism as specific mutations in RELN can cause2
 
autosomal recessive lissenanchephaly, which is a disorder of unsuccessful neuronalmigration. It has been found through postmortem studies that the corresponding protein,reelin, is expressed irregularly in autistic individuals (Veenstra-VanderWeele et al.,2004). WNT2 is another candidate gene located in the same region. A survey mentioned by Folstein and Rosen-Sheidley (2001) found that 2 out of 75 families had both affectedsiblings with mutations of this gene. WNT genes are normally expressed duringdevelopment of tissues, particularly during development of the nervous system. TheWNT signal is transferred depending on the disheveled (DVL) family of proteins. Astudy conducted on DVL knockout mice has shown their behaviour to be lacking insocial interaction, which is significant in relation to autism (Folstein and Rosen-Sheidley,2001).A gene called DLX5 has been investigated as a candidate gene for autism. Thisgene has received special focus as it is part of a family of genes that encode a group of transcription factors that play crucial roles in the development of the nervous system.DLX5 and DLX2 regulate expression of glutamic acid decarboxylase, which is theenzyme that generates the neurotransmitter GABA. These proteins are vital to theassignation and function of a group of neurons implicated in the pathogenesis of autism.Several studies mentioned by Schanen, (2006), were done on DLX5 and althoughsequence variants were discovered that could affect its expression or purpose, it could not be definitively linked to autism (Schanen, 2006).3

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