Background: Leber hereditary optic neuropathy (LHON) is the most common mitochondrial disorder, frequently resulting in acute or subacute severe bilateral central vision loss. Vitamin B12 deficiency is also a known cause of optic neuropathy through mitochondrial dysfunction. Here we evaluated the prevalence and clinical significance of vitamin B12 deficiency in a large cohort of LHON patients and asymptomatic mutation carriers from a tertiary referral center.
Methods: From the Munich LHON prospective cohort study, participants included all LHON patients and asymptomatic LHON mutation carriers, who were recruited between February 2014 and March 2020 and consented to participate. Neurological, general, and ophthalmological examinations were regularly performed, as were laboratory tests. Vitamin B12 deficiency was diagnosed if serum vitamin B12 was below 201 pg/mL, or if 201-339 pg/mL plus low serum holotranscobalamin or elevated serum methylmalonic acid or elevated total plasma homocysteine.
Results: We analyzed 244 subjects, including 147 symptomatic LHON patients (74% males) and 97 asymptomatic mutation carriers (31% males). Median age at study baseline was 34 years (range 5-82 years). The prevalence of vitamin B12 deficiency was higher for LHON mutation carriers than for the general population in all age categories. This was statistically significant for the LHON mutation carriers under 65 years (21% vs. 5-7%, p = 0.002). While vitamin B12 deficiency prevalence was not statistically different between LHON patients and asymptomatic mutation carriers, its clinical correlates, e.g., macrocytosis and polyneuropathy, were more frequent in the subgroup of LHON patients. Excessive alcohol consumption was a significant predictor of vitamin B12 deficiency (p < 0.05).
Conclusions: The high prevalence of vitamin B12 deficiency in LHON mutation carriers, both asymptomatic mutation carriers and LHON patients, highlights the need for regular vitamin B12 screening in this population, in order to ensure early treatment, aiming for better outcomes. Our study is not conclusive regarding vitamin B12 deficiency as determinant for disease conversion in LHON, and further research is warranted to disentangle the role of vitamin B12 in the pathophysiology and prognosis of LHON.
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http://dx.doi.org/10.1186/s13023-022-02453-z | DOI Listing |
Reprod Biol Endocrinol
January 2025
Departments of Internal Medicine and Obstetrics, Gynecology and Reproductive Sciences, Yale School of Medicine, 330 Cedar St, New Haven, CT, 06510, USA.
Background: Overweight and obesity-chronic illnesses in which an increase in body fat promotes adipose tissue dysfunction and abnormal fat mass resulting in adverse metabolic, biomechanical, and psychosocial health consequences-negatively impact female fertility. Adverse conception outcomes are multifactorial, ranging from poor oocyte quality and implantation issues to miscarriages and fetal health issues. However, with the advent of novel pharmacologic agents, significant weight loss can be achieved, improving the chances of healthy pregnancies, and their use should be considered during periconceptual counseling.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Sports Medical Science, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita, Osaka, 565-0871, Japan.
Postoperative adhesion around nerves sometimes results in sensory and motor dysfunctions. To prevent these disorders, we have developed an electrospun nanofiber sheet incorporating methylcobalamin (MeCbl), an active form of vitamin B12 with anti-inflammatory and neuroregenerative effects. This study aimed to investigate the neuroprotective effects of MeCbl sheets against postoperative adhesion and to compare the effects of MeCbl sheets with those of porcine small intestinal submucosa (SIS) sheets using a rat sciatic nerve adhesion model.
View Article and Find Full Text PDFAndes Pediatr
October 2024
Facultad de Medicina, Departamento de Gastroenterología y Nutrición Pediátrica, Pontificia Universidad Católica de Chile, Santiago, Chile.
Unlabelled: The Ketogenic Diet (KD) is a non-pharmacological strategy for drug-resistant epilepsy (DRE) and inborn errors of metabolism (Glut-1 deficiency) management. KD is characterized by being restrictive, affecting micronutrient intake. There are different modalities of KD in which food intake and nutritional deficiencies vary.
View Article and Find Full Text PDFInt J Health Sci (Qassim)
January 2025
Department of Laboratory, Madinah General Hospital, King Salman bin Abdul Aziz Medical City, Madinah Munnawarah, Saudi Arabia.
Objectives: Vitamin B12 (Cobalamin or Cbl) plays a crucial role in normal human growth and development, as well as in neurological, cardiovascular, and immune systems. Previous studies reported association of high levels of cobalamin with solid cancers, hematological disorders, and liver diseases. Reporting the frequency of comorbid diseases with high serum Vitamin B12 level in patients attending KSAMC at Madinah.
View Article and Find Full Text PDFMetabol Open
March 2025
Department of Midwifery, Faculty of Health and Care Sciences, University of West Attica, Egaleo, Greece.
Introduction: The increasing adoption of strict vegetarian diets during pregnancy has raised concerns about their effects on maternal and neonatal outcomes. This systematic review and meta-analysis aimed to assess the impact of strict vegetarian diets on key pregnancy outcomes, including neonatal birth weight, small-for-gestational-age (SGA) infants, gestational diabetes mellitus (GDM), hypertensive disorders, and gestational weight gain (GWG).
Methods: A comprehensive literature search across multiple databases yielded eight studies from various countries, involving a total of 72,284 participants.
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