Lipodystrophy syndromes are disorders in which an individual’s adipose tissue mass is abnormally changed. A shift in adipose mass can range from a minor redistribution in some people with partial lipodystrophy to a near-complete lack of adipose tissue in people with the most severe cases of generalized lipodystrophy. The common trait was a gap between the individual’s demand for a safe, healthy lipid storage capacity and the amount of adipose mass available to fulfill this vital function.
When lipids cannot be partitioned for storage in properly functioning adipocytes, they accumulate in other tissues, resulting in diseases such as diabetes, dyslipidemia, fatty liver, and cardiovascular disease. Several genes have been identified as being responsible for hereditary lipodystrophy. Because several of these genes are linked to adipose dysfunction, the genetic foundation for disease pathophysiology appears obvious. However, it was unclear why disruption of other lipodystrophy genes would influence adipose growth or function or why, in partial lipodystrophy, just specific adipose depots would be affected.
The ability to reveal crucial new insights into the formation and activities of adipose tissue depends on elucidating the molecular functions of these genes, as well as their cellular and physiological impacts. The knowledge was also likely to help better manage lipodystrophy and patient treatment. Furthermore, the findings frequently applied to other adipose tissue dysfunction-related disorders, such as the more common metabolic illness linked with obesity.