{"id":2820,"date":"2025-08-16T16:03:10","date_gmt":"2025-08-16T16:03:10","guid":{"rendered":"https:\/\/www.europesays.com\/ie\/2820\/"},"modified":"2025-08-16T16:03:10","modified_gmt":"2025-08-16T16:03:10","slug":"study-genetic-variant-inherited-from-neanderthals-reduces-activity-of-key-muscle-enzyme","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/ie\/2820\/","title":{"rendered":"Study: Genetic Variant Inherited from Neanderthals Reduces Activity of Key Muscle Enzyme"},"content":{"rendered":"

The Neanderthal variant in AMPD1 decreases its enzymatic activity by 25% in lab-produced proteins and by up to 80% in the muscles of genetically engineered mice; the variant is found in all sequenced Neanderthals, but is absent in all other species. It entered the modern human gene pool through interbreeding around 50,000 years ago. As a result, up to 8% of present-day Europeans carry it.<\/strong><\/p>\n

\"Macak<\/p>\n

Macak et al. show that a genetic variant inherited from Neanderthals impairs the function of a key enzyme involved in muscle performance. Image credit: Holger Neumann \/ Neanderthal Museum.<\/p>\n

The enzyme AMPD1 plays a key role in muscle energy production and normal muscular function.<\/p>\n

Loss of its activity due to genetic mutations is the most common cause of metabolic myopathy in Europeans, occurring at a frequency of 9-14%.<\/p>\n

In a new study, Dr. Dominik Macak from the Max Planck Institute for Evolutionary Anthropology and his colleagues compared ancient Neanderthal DNA with modern human genomes.<\/p>\n

They found that all Neanderthals carried a specific AMPD1 variant absent in other species.<\/p>\n

Laboratory-produced enzymes with this variant showed a 25% reduction in AMPD1 activity.<\/p>\n

When introduced into genetically engineered mice, the reduction reached 80% in muscle tissue, impairing enzyme function.<\/p>\n

The researchers also revealed that modern humans inherited this variant through interbreeding with Neanderthals, who inhabited Europe and Western Asia before encountering modern humans around 50,000 years ago.<\/p>\n

Today, individuals of non-African descent carry roughly 1-2% of Neanderthal DNA.<\/p>\n

The Neanderthal AMPD1 variant is carried by 2-8% of Europeans today, suggesting that it is generally tolerated.<\/p>\n

\u201cStrikingly, most individuals who carry the variant do not experience significant health issues,\u201d Dr. Macak said.<\/p>\n

\u201cHowever, the enzyme appears to play an important role in athletic performance.\u201d<\/p>\n

An analysis of over a thousand elite athletes across various sports revealed that individuals who carry a non-functional AMPD1 are less likely to become top-level athletes.<\/p>\n

\u201cCarrying a broken AMPD1 enzyme, the likelihood of reaching athletic performance is reduced by half\u201d, Dr. Macak said.<\/p>\n

Although AMPD1 activity appears to have only moderate relevance in contemporary Western societies, it is important under extreme physical conditions, such as those experienced by athletes.<\/p>\n

The scientists emphasize the importance of studying genetic variants in their physiological and evolutionary contexts in order to understand their biological effects.<\/p>\n

\u201cIt\u2019s possible that cultural and technological advances in both modern humans and Neanderthals reduced the need for extreme muscle performance,\u201d said Dr. Hugo Zeberg, a researcher at the Max Planck Institute for Evolutionary Anthropology and Karolinska Institutet.<\/p>\n

\u201cUnderstanding how ancient gene variants affect human physiology today can provide valuable insights into health, performance, and genetic diversity.\u201d<\/p>\n

The findings<\/a> were published on July 10, 2025 in the journal Nature Communications.<\/p>\n

_____<\/p>\n

D. Macak et al. 2025. Muscle AMP deaminase activity was lower in Neandertals than in modern humans. Nat Commun 16, 6371; doi: 10.1038\/s41467-025-61605-4<\/p>\n","protected":false},"excerpt":{"rendered":"The Neanderthal variant in AMPD1 decreases its enzymatic activity by 25% in lab-produced proteins and by up to…\n","protected":false},"author":2,"featured_media":2821,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[272],"tags":[3285,3286,18,3287,1015,3288,458,3289,3290,3291,3292,3293,19,17,3294,3295,170,133],"class_list":{"0":"post-2820","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-ampd1","9":"tag-dna","10":"tag-eire","11":"tag-enzyme","12":"tag-europe","13":"tag-gene","14":"tag-genetics","15":"tag-genome","16":"tag-homo","17":"tag-homo-neanderthalensis","18":"tag-homo-sapiens","19":"tag-human","20":"tag-ie","21":"tag-ireland","22":"tag-muscle","23":"tag-neanderthal","24":"tag-protein","25":"tag-science"},"share_on_mastodon":{"url":"","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/posts\/2820","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/comments?post=2820"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/posts\/2820\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/media\/2821"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/media?parent=2820"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/categories?post=2820"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/tags?post=2820"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}