Gene defects in the soma

Some get it and some don't!

Bernice Lo, Michael J. Lenardo

Research output: Contribution to journalComment/debate

1 Citation (Scopus)

Abstract

Advances in DNA sequencing technologies have increased attention on genetic variation in somatic tissues. Although long known to cause neoplastic diseases, somatic variation is now being investigated as a pathogenetic mechanism for other diseases. Somatic changes are genomic DNA variations that were not inherited but arise in tissues throughout life. In this issue of the JCI, Magerus-Chatinet et al. explore somatic changes in patients with autoimmune lymphoproliferative syndrome (ALPS), a congenital disease of defective apoptosis and autoimmunity that is usually associated with germline heterozygous mutations in the gene encoding the Fas death receptor. They explain why certain individuals have severe disease manifestations by documenting somatic alterations in the germline normal FAS allele in an unusual population of "double-negative" T cells found in ALPS. Thus, the oncological concept of somatic loss of heterozygosity leading to selected cell expansion also applies to autoimmune diseases.

Original languageEnglish
Pages (from-to)16-19
Number of pages4
JournalJournal of Clinical Investigation
Volume121
Issue number1
DOIs
Publication statusPublished - 4 Jan 2011
Externally publishedYes

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Carisoprodol
Autoimmune Lymphoproliferative Syndrome
Genes
CD95 Antigens
Death Domain Receptors
Germ-Line Mutation
Loss of Heterozygosity
Autoimmunity
DNA Sequence Analysis
Autoimmune Diseases
Alleles
Apoptosis
Technology
T-Lymphocytes
DNA
Population

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Gene defects in the soma : Some get it and some don't! / Lo, Bernice; Lenardo, Michael J.

In: Journal of Clinical Investigation, Vol. 121, No. 1, 04.01.2011, p. 16-19.

Research output: Contribution to journalComment/debate

Lo, Bernice ; Lenardo, Michael J. / Gene defects in the soma : Some get it and some don't!. In: Journal of Clinical Investigation. 2011 ; Vol. 121, No. 1. pp. 16-19.
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