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Identification of an adrenaline receptor mutation in a family with atypical lipodystrophy

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Lipodystrophy syndromes are characterized by an abnormal distribution of adipose tissue and metabolic dysfunction. These disorders are rare and the underlying genetic abnormalities that lead to altered fat distribution are not fully known. In this issue of JCI Insight, Abhimanyu Garg and colleagues at UT Southwestern Medical Center identify a genetic mutation that caused atypical lipodystrophy in a single family. Affected individuals had a marked loss of fat from the limbs but excessive accumulation of adipose tissue in the face and neck. Additionally, family members with this lipodystrophy went on to develop metabolic complications. Genome sequencing revealed the presence of a heterogeneous mutation in the gene encoding adrenoceptor α 2A (ADRA2A), which reduces the breakdown of lipids in adipocytes when activated by adrenaline. The mutation resulted in loss of ADRA2A function, which could explain excessive fat loss in some adipose deposits in these individuals. The results of this study add to the list of known lipodystrophy-causing mutations.

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TITLE:

Whole-exome sequencing identifies ADRA2A mutation in atypical familial partial lipodystrophy

AUTHOR CONTACT:

Abhimanyu Garg
UT Southwestern Medical Center
Email: [email protected]

View this article at: http://insight.jci.org/articles/view/86870?key=3d547fb25d16dcd1e038

JCI Insight is the newest publication from the American Society of Clinical Investigation, a nonprofit honor organization of physician-scientists. JCI Insight is dedicated to publishing a range of translational biomedical research with an emphasis on rigorous experimental methods and data reporting. All articles published in JCI Insight are freely available at the time of publication. For more information about JCI Insight and all of the latest articles go to http://www.insight.jci.org.

Media Contact

Corinne Williams
[email protected]
@jclinicalinvest

http://www.jci.org

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