SCIENTISTS IDENTIFY A GENETIC CAUSE OF HAIR LOSS 
Findings could eventually lead to novel treatments for baldness 

November 9, 2006 

WORCESTER, Mass. - Although millions of dollars are invested annually by pharmaceutical and cosmetics companies in the quest for a treatment for baldness, the molecular mechanisms controlling human hair growth and scalp hair loss are still poorly understood. Now, a newly discovered genetic mutation could illuminate the causes of baldness and may point the way to novel agents for the control of hair loss and growth, according to researchers. 

In "Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH," published in the November issue of Science, University of Massachusetts Medical School and Russian Academy of Medical Sciences Professor of Psychiatry Evgeny I. Rogaev, PhD, and colleagues from UMass Medical School, the Russian Academy of Sciences and Medical Sciences and Lomonosov Moscow State University, discovered a genetic mutation that they propose results in the decrease and eventual arrest of hair growth in humans, both males and females.

Previously, in an effort to begin to understand the genetic causes of hair loss, Dr. Rogaev and colleagues described a particular form of hypotrichosis-a condition characterized by hair loss and deficient hair growth-found in specific ethnic populations in Russia. In addition to problems in scalp hair growth, the individuals with the disorder are also characterized by deficiency in body hair growth. In order to identify the genetic cause of this condition, which interestingly included no other adverse physical defects, the investigators expanded their current research to include the genetic screening of more than 350,000 individuals from these populations. Using 50 families for identification of the presumable gene underlying this condition, the researchers employed strategies of mapping and positional cloning, which have been previously successful in finding genes for other human diseases.

Analyzing the genetic sequence of the family members, the investigators found that all of the affected individuals had a mutation of a gene called LIPH, an enzyme that produces simple bioactive lipids such as fatty acids. Subsequent experiments indicated that LIPH in its usual state is expressed in hair follicles, including the region containing stem cells and, therefore, likely plays a significant role in normal hair development and growth. 

Although further study is required to define the exact physiological function of LIPH, the identification of this genetic defect indicates that the gene plays an important role in the regulation of hair growth. Therefore, LIPH and other molecules in this novel pathway may be a potential target for the development of a therapeutic agent for the control of hair loss or growth. 

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The University of Massachusetts Medical School, one of the fastest growing academic health centers in the country, has built a reputation as a world-class research institution, consistently producing noteworthy advances in clinical and basic research.  The Medical School attracts more than $174 million in research funding annually, 80 percent of which comes from federal funding sources. UMMS is the academic partner of UMass Memorial Health Care, the largest health care provider in Central Massachusetts. For more information visit  www.umassmed.edu .