Amyotrophic lateral sclerosis 1

Causes

What gene changes cause Amyotrophic Lateral Sclerosis?

Changes in several genes have been reported to cause familial amyotrophic lateral sclerosis (ALS). Some forms of ALS are autosomal dominant, in which only one of the two copies of the gene need to have a disease-causing change. Others are autosomal recessive and both copies of the gene must have a disease-causing change.

These genes have been reported to cause autosomal dominant familial ALS:

SOD1

SETX

FUS/TLS

VAPB

ANG

TARDBP

FIG4

C9orf72

CHCHD10

VCP

TBK1

These genes have been reported to cause autosomal recessive familial ALS:

ALS2

OPTN

SPG20

Variants in the UBQLN2 gene have been reported to call X-linked dominant familial ALS. In these cases, both men and women are affected but the gene can not be passed from male to male.

References
  • OMIM
  • http://www.ncbi.nlm.nih.gov/books/NBK1450/
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Is there a gene mutation that is more common than others for Amyotrophic Lateral Sclerosis?

Are there any outside factors that make Amyotrophic Lateral Sclerosis worse?

Is there a genetic predisposition or cause of amyotrophic lateral sclerosis?

Is there a way someone can have Amyotrophic Lateral Sclerosis without a genetic mutation?

Is there a gene mutation that is more common than others for Amyotrophic Lateral Sclerosis?

There is not a specific genetic variant, or mutation, that causes the majority of amyotrophic lateral sclerosis (ALS). However, about 25-30% of familial ALS cases and a small percent of sporadic cases are caused by a specific type of genetic variation in the C9orf72 gene called a hexanucleotide repeat. The hexanucleotide repeat is a region which affected individuals have more repeated copies of the DNA sequence GGGGCC. More than 60 repeats of the GGGGCC sequence are generally considered to be disease-causing. The function of this gene is unknown. An additional 20% of familial ALS cases are caused by genetic variants in the SOD1 gene.

References
Are there any outside factors that make Amyotrophic Lateral Sclerosis worse?

It is thought that there are environmental factors that can cause amyotrophic lateral sclerosis (ALS). These environmental factors include exposure to heavy metals like mercury and lead, toxic/infectious agents like pesticides, specific types of head trauma, or occupational factors. There are also ongoing studies in United States veterans to determine if military-related exposures have contributed to ALS in that population. However, none of these has been conclusively demonstrated to be a significant cause of all sporadic ALS.

Is there a genetic predisposition or cause of amyotrophic lateral sclerosis?

There are two types of amyotrophic lateral sclerosis (ALS): acquired and familial. People who have familial ALS develop the disease because they have inherited genetic changes that cause the disease. About 5-10% of ALS is familial. Most people who have ALS have the acquired type, meaning that it does not seem to be caused by a single genetic change and may be the result of environmental and other factors.

Is there a way someone can have Amyotrophic Lateral Sclerosis without a genetic mutation?

There are two types of amyotrophic lateral sclerosis (ALS): acquired and familial. 90-95% of people who have ALS have the acquired type, meaning that it does not seem to be caused by a single genetic change and may be the result of environmental and other factors. It has been suggested that some environmental factors can make someone more likely to develop ALS. These environmental factors include exposure to heavy metals like mercury and lead, toxic/infectious agents like pesticides, specific types of head trauma, or occupational factors. There are also ongoing studies in United States veterans to determine if military-related exposures have contributed to ALS in that population. However, none of these has been conclusively demonstrated to be a significant cause of all sporadic ALS so there are no specific measures that can eliminate the risk for ALS altogether.

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