Linkage of Familial Amyotrophic Lateral Sclerosis With Frontotemporal Dementia to Chromosome 9q21-q22

Article Abstract:

Researchers have identified a potential gene mutation that may cause amyotrophic lateral sclerosis (ALS) and frontotemporal dementia in the same person. The gene is located on human chromosome 9q21-q22. Patients with ALS alone did not have the mutation.

Health aspects, Gene mutations, Gene mutation, Dementia

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Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity

Article Abstract:

Amyotrophic lateral sclerosis (ALS), popularly called Lou Gehrig's disease, is characterized by the death of motor neurons, large nerve cells in the brain and spinal cord which directly control the muscles. The disorder results in progressive muscle wasting, which usually leads to death within about five years. The majority of cases of ALS are sporadic, and the cause is not known. However, from 5 to 10 percent of cases run in families. While it is certain that the mechanism of the disease cannot be identical in the familial and the sporadic cases, insights gained into the mechanisms of the inherited variant of ALS may provide greater understanding of motor neuron disease in general. For this reason, a study was undertaken of 23 family groups with ALS to identify as closely as possible the location of the putative ALS gene within the chromosomes. This sort of genetic testing is more difficult for ALS than for some other genetic disorders; since ALS patients die relatively rapidly, even within families carrying the disorder as a genetic trait most affected family members will not be available for testing. Traditionally, the localization of a genetic trait on the chromosomes required the examination of numerous individual traits, looking for one that occurs with the disease gene. That is, as the chromosomes get randomly passed on from generation to generation, the only characteristics that will tend to always be inherited as a pair will be those characteristics which are located close together on a single chromosome. With the advent of molecular biology, this testing has become easier to do. Rather than test for many individual traits, DNA markers are used; each DNA marker has an already well established location among the chromosomes. When these data were collected for the 23 families, it became clear that the gene for ALS in this group is located on the long arm of chromosome 21, more precisely around 21q22.1-22.2. However, analysis of the data also revealed that the disease is extremely unlikely to be genetically homogeneous. That is, indistinguishable disease symptoms are resulting from at least two different genes and only one is located near 21q22.1. (Consumer Summary produced by Reliance Medical Information, Inc.)

Usage, Chromosome mapping

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Complete genomic screen in late-onset familial Alzheimer disease: evidence for a new locus on chromosome 12

Article Abstract:

A gene on human chromosome 12 may be linked to late-onset Alzheimer's disease. Researchers used various genetic analyses to screen all chromosomes in 54 families with at least one member who had Alzheimer's disease. Fifteen chromosomes were identified as likely candidates and further analysis revealed that four of these chromosomes, namely 4, 6, 12, and 20, were the most likely candidates. Chromosome 12 in particular was most strongly linked to Alzheimer's disease, especially a region near the centromere. The centromere is a structure close to the midpoint of the chromosome.

Analysis, Alzheimer's disease, Human chromosomes

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