2. Academic Validation
  3. Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH

Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH

  • Science. 2006 Nov 10;314(5801):982-5. doi: 10.1126/science.1133276.
Anastasiya Kazantseva 1,  Andrey Goltsov,  Rena Zinchenko,  Anastasia P Grigorenko,  Anna V Abrukova,  Yuri K Moliaka,  Alexander G Kirillov,  Zhiru Guo,  Stephen Lyle,  Evgeny K Ginter,  Evgeny I Rogaev
Affiliations

Affiliation

  • 1 Brudnick Neuropsychiatric Research Institute, Department of Psychiatry, University of Massachusetts Medical School, 303 Belmont Street, Worcester, MA 01604, USA.
PMID: 17095700 DOI: 10.1126/science.1133276
Abstract

The molecular mechanisms controlling human hair growth and scalp hair loss are poorly understood. By screening about 350,000 individuals in two populations from the Volga-Ural region of Russia, we identified a gene mutation in families who show an inherited form of hair loss and a hair growth defect. Affected individuals were homozygous for a deletion in the LIPH gene on chromosome 3q27, caused by short interspersed nuclear element-retrotransposon-mediated recombination. The LIPH gene is expressed in hair follicles and encodes a Phospholipase called Lipase H (alternatively known as membrane-associated phosphatidic acid-selective Phospholipase A1alpha), an Enzyme that regulates the production of bioactive lipids. These results suggest that Lipase H participates in hair growth and development.

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