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Leptin Receptor Compound Heterozygosity in Humans and Animal Models

Leptin and its receptor are essential for regulating food intake, energy expenditure, glucose
homeostasis and fertility. Mutations within leptin or the leptin receptor cause early-onset obesity
and hyperphagia, as described in human and animal models. The effect of both heterozygous and
homozygous variants is much more investigated than compound heterozygous ones. Recently, we
discovered a spontaneous compound heterozygous mutation within the leptin receptor, resulting in
a considerably more obese phenotype than described for the homozygous leptin receptor deficient
mice. Accordingly, we focus on compound heterozygous mutations of the leptin receptor and their
effects on health, as well as possible therapy options in human and animal models in this review.

Identiferoai:union.ndltd.org:DRESDEN/oai:qucosa:de:qucosa:89851
Date15 February 2024
CreatorsBerger, Claudia, Klöting, Nora
PublisherMDPI
Source SetsHochschulschriftenserver (HSSS) der SLUB Dresden
LanguageEnglish
Detected LanguageEnglish
Typeinfo:eu-repo/semantics/publishedVersion, doc-type:article, info:eu-repo/semantics/article, doc-type:Text
Rightsinfo:eu-repo/semantics/openAccess
Relation4475, 10.3390/ijms22094475

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