Another rare genetic disease, and shortevity genes

Thanks again to Res for suggesting the lead which led to this post. 

Adding to the list of rare genetic disorders affecting longevity recently discussed in this Blog, there is Wolfram Syndrome.  This is a disease long known to be associated with mitochondrial dysfunction that leads to a complex of symptoms including Type 1 diabetes and problems with eyesight and hearing.  Wolfram Syndrome 1 is caused by mutations in the WFS1 gene.  Recently reported research points to a novel gene CISD2, whose deficiency leads to Wolfram Syndrome 2 (WFS2).  The gene is located on chromosome 4q which is known to be a candidate region for human longevity genes(ref).  The new research using CISD2 knockout mice shows “ — that CISD2 is involved in mammalian life-span control. Cisd2 deficiency in mice causes mitochondrial breakdown and dysfunction accompanied by autophagic cell death, and these events precede the two earliest manifestations of nerve and muscle degeneration; together, they lead to a panel of phenotypic features suggestive of premature aging(ref).’  the authors of the study suggest “that mutation of CISD2 causes the mitochondria-mediated disorder WFS2 in humans.”

I have previously discussed so-called longevity genes, mTOR in particular.  It seems more concise to describe genes that accelerate aging when they are dysfunctional as “shortevity genes.” So, also harkening back to earlier posts we have:

·        WFS1 and CISD2 are shortevity genes associated with Wolfram Syndrome

·        Certain of the sheltrin-producing genes are shortevity genes associated with Hoyeraal-Hreidarsson Syndrome(ref)

·        WRN is a shortevity gene associated with Werner Syndrome(ref)

·        LMNA is a shortevity gene associated with Hutchinson-Gilford progeria syndrome(ref)

Whether any of the shorevity genes have anything to do with possible extraordinary longevity is a very interesting open question.

About Vince Giuliano

Being a follower, connoisseur, and interpreter of longevity research is my latest career. I have been at this part-time for well over a decade, and in 2007 this became my mainline activity. In earlier reincarnations of my career. I was founding dean of a graduate school and a university professor at the State University of New York, a senior consultant working in a variety of fields at Arthur D. Little, Inc., Chief Scientist and C00 of Mirror Systems, a software company, and an international Internet consultant. I got off the ground with one of the earliest PhD's from Harvard in a field later to become known as computer science. Because there was no academic field of computer science at the time, to get through I had to qualify myself in hard sciences, so my studies focused heavily on quantum physics. In various ways I contributed to the Computer Revolution starting in the 1950s and the Internet Revolution starting in the late 1980s. I am now engaged in doing the same for The Longevity Revolution. I have published something like 200 books and papers as well as over 430 substantive.entries in this blog, and have enjoyed various periods of notoriety. If you do a Google search on Vincent E. Giuliano, most if not all of the entries on the first few pages that come up will be ones relating to me. I have a general writings site at and an extensive site of my art at Please note that I have recently changed my mailbox to
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