Inherited and acquired lipodystrophies: molecular-genetic and autoimmune mechanisms


Lipodystrophy syndromes form a heterogenous group of inherited or acquired rare disorders, characterized by total (generalized lipodystrophy) or partial fat loss (partial lipodystrophy), usually accompanied by different metabolic disorders. Based on etiology lipodystrophies can be inherited or acquired. As a result of a significant progress in molecular genetics 20 new genes, associated with different lipodystrophy syndromes, were discovered during the last 20 years. However according to the majority of researchers’ data mutations in these causative genes are not found in approximately half of the patients. This might mean the need for both further molecular-genetic studies and the search for autoimmune factors playing a role in lipodystrophy syndromes etiology.

Ekaterina L Sorkina

Author for correspondence.
ORCID iD: 0000-0001-7006-0664
SPIN-code: 7777-0248
Endocrinology research centre, Moscow, Russia
Russian Federation, 117036, Moscow, ulitsa Dmitriya Ulyanova, 11

research assistant of clamp-technologies laboratory

Anatoly Tiulpakov
SPIN-code: 8396-1798
Endocrinology research centre, Moscow, Russia
Russian Federation, 117036, Moscow, ulitsa Dmitriya Ulyanova, 11

Sc.D., head of the department of inherited endocrine disorders

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