Mutation-causing mutations

Article Abstract:

The WRN mutation-causing gene, a member of the RecQ helicase protein family, causes Werner's syndrome (WS) in humans. WS is a rare autosomal recessive disorder which causes hair loss, skin elasticity loss and short stature. Database comparative studies show a similarity of the WRN product to the RecQ subfamily of DExH-box-containing helicases. WS is similar to the Bloom's syndrome (BS), which is characterized by disorders such as genomic instability. The chromosomal abnormalities in WS and BS cells indicate a role for WRN and BS genes in gene replication.

Syndromes, Human chromosome abnormalities

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All out for chromosome six

Article Abstract:

Analysis of data from different independent research efforts confirms that chromosome 6p carries a locus that influences schizophrenia. A report of the finding appeared in the Nov 1995 issue of Nature Genetics, which has focused the attention of schizophrenia researchers on a region on the small arm (p) of chromosome 6. The report is a result of a three phase research effort conducted by H.W. Moises and others on 430 families of different ethnic origins and 113 schizophrenics with normal parents from China.

Chromosome abnormalities, Schizophrenia

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Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

Article Abstract:

The infantile subtype of neuronal ceroid lipofuscinoses (INCL) appears to be tied to mutations in the palmitoyl-protein thioesterase (PPT) gene on chromosome 1p32. An analysis of 42 Finnish patients with INCL showed that all patients had a mutation in the PPT gene though three independent mutations were found. However, the way that PPT enzyme defects cause cortical neuron degeneration has not yet been discovered.

Encephalopathy

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