Gene Mutation Can Leave People Without
THURSDAY, Aug. 4 (HealthDay News) -- People with a rare
condition where they are born without fingerprints may have a
genetic mutation, according to a new study.
The findings, published in the Aug. 4 online edition of the
American Journal of Human Genetics, could shed light on how fingerprints are formed as well as how genetic mutations can help uncover unknown aspects of human biology, the researchers pointed out.
"We know that fingerprints are fully formed by 24 weeks after fertilization and do not undergo any modification throughout life," the study's senior author, Dr. Eli Sprecher from Tel Aviv Sourasky Medical Center in Israel, said in a journal news release. "However, the factors underlying the formation and pattern of fingerprints during embryonic development are largely unknown."
In investigating adermatoglyphia, which causes people to be born
without fingerprints (dermatoglyphs, or ridges on the fingertips),
and also affects the palms, toes and soles, researchers examined a
large Swiss family affected by the extremely rare condition. Not
only were they all born without fingerprints, they also lacked the
usual number of sweat glands.
Through genetic analysis of the family members with and without
the condition, scientists revealed the disease is caused by a
mutation in a gene found in the skin called the SMARCAD1 gene. They
also found a short version of this gene was mutated in individuals
with the disease.
"Taken together, our findings implicate a skin-specific version of [the gene] SMARCAD1 in the regulation of fingerprint development," Sprecher said. "Although little is known about the function of full-length SMARCAD1 and virtually nothing regarding the physiological role of the skin-specific version of the gene, it is tempting to speculate that SMARCAD1 in the skin may target genes involved in dermatoglyph and sweat gland development, two structures jointly affected in the present family."
The researchers noted that the findings may contribute to the
investigation of other diseases affecting more than the skin.
The U.S. Federal Bureau of Investigation provides more
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