Scientists Uncover Genetic Basis for Lactose Intolerance

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It's a strange irony that the substance we depend on for nutrients early in life can trigger unpleasant symptoms when we consume it as adults. But in North America alone, lactose intolerance¿the inability to digest the main sugar in milk¿affects more than 30 million adults, mostly of African or Asian descent. Northern Europeans, on the other hand, tend to retain the ability to break down lactose. Yet the gene that encodes lactase (the enzyme that is responsible for processing lactose) does not appear to differ between lactose-tolerant and lactose-intolerant populations¿an observation that has led to much scientific head-scratching.

Now new research, published in the February issue of the journal Nature Genetics, has finally revealed the long-sought genetic basis for lactose intolerance. The findings could hasten the development of reliable diagnostic tests for the disorder.


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Studying the DNA of nine extended Finnish families, Leena Peltonen of the University of California, Los Angeles, and colleagues discovered two DNA variants located outside the lactase gene itself that correspond to lactose tolerance and intolerance. Importantly, lactose-intolerant members of the Finnish families shared the same DNA variant found in lactose-intolerant individuals from Germany, Italy and South Korea, among others, which suggests to the researchers that lactose intolerance has ancient roots. Indeed persistent lactase activity, they say, may have only evolved with the advent of dairy farming, around 10,000 years ago.

Kate Wong is an award-winning science writer and senior editor for features at Scientific American, where she has focused on evolution, ecology, anthropology, archaeology, paleontology and animal behavior. She is fascinated by human origins, which she has covered for nearly 30 years. Recently she has become obsessed with birds. Her reporting has taken her to caves in France and Croatia that Neandertals once called home to the shores of Kenya’s Lake Turkana in search of the oldest stone tools in the world, as well as to Madagascar on an expedition to unearth ancient mammals and dinosaurs, the icy waters of Antarctica, where humpback whales feast on krill, and a “Big Day” race around the state of Connecticut to find as many bird species as possible in 24 hours. Wong is co-author, with Donald Johanson, of Lucy’s Legacy: The Quest for Human Origins. She holds a bachelor of science degree in biological anthropology and zoology from the University of Michigan. Follow her on Bluesky @katewong.bsky.social

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